rsid
large_stringlengths
5
12
variant_key
large_stringlengths
5
111
conclusion
large_stringlengths
10
1.08k
negatives
large_stringclasses
0 values
module
large_stringclasses
10 values
gene
large_stringlengths
0
12
phenotype
large_stringlengths
0
1.02k
category
large_stringclasses
13 values
rs1766419869
rs1766419869
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1766419869
rs1766419869
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1469278346
rs1469278346
ClinVar: pathogenic (2★) — Classic or attenuated familial adenomatous polyposis|not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Classic or attenuated familial adenomatous polyposis|not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1469278346
rs1469278346
ClinVar: pathogenic (2★) — Classic or attenuated familial adenomatous polyposis|not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Classic or attenuated familial adenomatous polyposis|not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1554088206
rs1554088206
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1554088206
rs1554088206
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs2533782218
rs2533782218
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533782218
rs2533782218
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112842884:TAGATC:T
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112842884:TAGATC:T
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149983785
rs2149983785
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149983785
rs2149983785
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1580680919
rs1580680919
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1580680919
rs1580680919
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2533783025
rs2533783025
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533783025
rs2533783025
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533783571
rs2533783571
ClinVar: pathogenic (1★) — Classic or attenuated familial adenomatous polyposis | genotype: heterozygous (one copy)
null
cancer
APC
Classic or attenuated familial adenomatous polyposis
rs2533783571
rs2533783571
ClinVar: pathogenic (1★) — Classic or attenuated familial adenomatous polyposis | genotype: homozygous (two copies)
null
cancer
APC
Classic or attenuated familial adenomatous polyposis
null
5:112842900:GTA:G
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
null
5:112842900:GTA:G
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1270166239
rs1270166239
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1270166239
rs1270166239
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149984801
rs2149984801
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149984801
rs2149984801
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533786519
rs2533786519
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533786519
rs2533786519
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533786957
rs2533786957
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533786957
rs2533786957
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs775437110
rs775437110
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs775437110
rs775437110
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1554088313
rs1554088313
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis
rs1554088313
rs1554088313
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis
rs1580682001
rs1580682001
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1580682001
rs1580682001
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
null
5:112842987:C:CT
ClinVar: likely_pathogenic (1★) — APC-related polyposis | genotype: heterozygous (one copy)
null
cancer
APC
APC-related polyposis
null
5:112842987:C:CT
ClinVar: likely_pathogenic (1★) — APC-related polyposis | genotype: homozygous (two copies)
null
cancer
APC
APC-related polyposis
rs2533790094
rs2533790094
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533790094
rs2533790094
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1218259827
rs1218259827
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1218259827
rs1218259827
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533792529
rs2533792529
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533792529
rs2533792529
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1580682528
rs1580682528
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs1580682528
rs1580682528
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs1554088359
rs1554088359
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
rs1554088359
rs1554088359
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome
null
5:112843045:T:TG
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
null
5:112843045:T:TG
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2149987292
rs2149987292
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149987292
rs2149987292
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1554088383
rs1554088383
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1554088383
rs1554088383
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs2533795747
rs2533795747
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533795747
rs2533795747
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1554088391
rs1554088391
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1
rs1554088391
rs1554088391
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1
rs1409414498
rs1409414498
ClinVar: pathogenic (3★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided
rs1409414498
rs1409414498
ClinVar: pathogenic (3★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided
rs2533797137
rs2533797137
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs2533797137
rs2533797137
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs372535376
rs372535376
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs372535376
rs372535376
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs755046558
rs755046558
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1
rs755046558
rs755046558
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 1
rs1554088413
rs1554088413
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1554088413
rs1554088413
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs79630786
rs79630786
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided|Familial multiple polyposis syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided|Familial multiple polyposis syndrome
rs79630786
rs79630786
ClinVar: pathogenic (2★) — Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided|Familial multiple polyposis syndrome | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1|Hereditary cancer-predisposing syndrome|not provided|Familial multiple polyposis syndrome
null
5:112843113:CTCCCACCTAATCTCAG:C
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112843113:CTCCCACCTAATCTCAG:C
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112843123:ATC:A
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112843123:ATC:A
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs143060722
rs143060722
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs143060722
rs143060722
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
rs1580684327
rs1580684327
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided
rs1580684327
rs1580684327
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|not provided
rs2533804326
rs2533804326
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533804326
rs2533804326
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1766523945
rs1766523945
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1766523945
rs1766523945
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1580684796
rs1580684796
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
APC
not provided
rs1580684796
rs1580684796
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
APC
not provided
rs1172624671
rs1172624671
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs1172624671
rs1172624671
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149990719
rs2149990719
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2149990719
rs2149990719
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112843220:TAGGTC:T
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
null
5:112843220:TAGGTC:T
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533808403
rs2533808403
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533808403
rs2533808403
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533808974
rs2533808974
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533808974
rs2533808974
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533809953
rs2533809953
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533809953
rs2533809953
ClinVar: likely_pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533810397
rs2533810397
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Familial adenomatous polyposis 1
rs2533810397
rs2533810397
ClinVar: pathogenic (1★) — Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Familial adenomatous polyposis 1
rs1554088582
rs1554088582
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome
rs1554088582
rs1554088582
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome
null
ga4gh:VA.cxD-aEBs8X80d6cQYo_XE0I-Jmos8mVG
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: heterozygous (one copy)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1
null
ga4gh:VA.cxD-aEBs8X80d6cQYo_XE0I-Jmos8mVG
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1 | genotype: homozygous (two copies)
null
cancer
APC
Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1