gene large_stringclasses 132
values | allele large_stringclasses 978
values | rsid large_stringclasses 980
values | chrom large_stringclasses 23
values | start int64 663 234M ⌀ | variant_allele large_stringclasses 81
values |
|---|---|---|---|---|---|
ABCG2 | rs2231142 reference (G) | rs2231142 | 4 | 88,131,171 | G |
ABCG2 | rs2231142 variant (T) | rs2231142 | 4 | 88,131,171 | T |
CACNA1S | Reference | rs1800559 | 1 | 201,060,815 | C |
CACNA1S | Reference | rs772226819 | 1 | 201,091,993 | G |
CACNA1S | c.3257G>A | rs1800559 | 1 | 201,060,815 | T |
CACNA1S | c.520C>T | rs772226819 | 1 | 201,091,993 | A |
CFTR | 2789+5G->A | rs80224560 | 7 | 117,602,868 | A |
CFTR | 3272-26A->G | rs76151804 | 7 | 117,611,555 | G |
CFTR | 3849+10kbC->T | rs75039782 | 7 | 117,639,961 | T |
CFTR | 711+3A->G | rs397508761 | 7 | 117,534,368 | G |
CFTR | A1067T | rs121909020 | 7 | 117,611,640 | A |
CFTR | A120T | rs201958172 | 7 | 117,530,983 | A |
CFTR | A234D | rs769016520 | 7 | 117,535,369 | A |
CFTR | A349V | rs121909021 | 7 | 117,540,276 | T |
CFTR | A455E | rs74551128 | 7 | 117,548,795 | A |
CFTR | D110E | rs397508537 | 7 | 117,530,955 | A |
CFTR | D110H | rs113993958 | 7 | 117,530,953 | C |
CFTR | D1152H | rs75541969 | 7 | 117,614,699 | C |
CFTR | D1270N | rs11971167 | 7 | 117,642,528 | A |
CFTR | D192G | rs397508758 | 7 | 117,534,361 | G |
CFTR | D579G | rs397508288 | 7 | 117,590,409 | G |
CFTR | D924N | rs201759207 | 7 | 117,603,644 | A |
CFTR | E193K | rs397508759 | 7 | 117,534,363 | A |
CFTR | E56K | rs397508256 | 7 | 117,509,035 | A |
CFTR | E822K | rs397508378 | 7 | 117,592,631 | A |
CFTR | E831X | rs397508387 | 7 | 117,594,930 | T |
CFTR | F1052V | rs150212784 | 7 | 117,611,595 | G |
CFTR | F1074L | rs186045772 | 7 | 117,611,663 | A |
CFTR | F311L | rs2116683801 | 7 | 117,540,161 | C |
CFTR | F311del | null | 7 | 117,540,161 | DELTTC |
CFTR | F508C | rs74571530 | 7 | 117,559,594 | C |
CFTR | F508C,S1251N | rs74571530 | 7 | 117,559,594 | C |
CFTR | F508C,S1251N | rs74503330 | 7 | 117,642,472 | A |
CFTR | G1069R | rs200321110 | 7 | 117,611,646 | A |
CFTR | G1244E | rs267606723 | 7 | 117,642,451 | A |
CFTR | G1249R(G>A) | rs397508602 | 7 | 117,642,465 | A |
CFTR | G1249R(G>C) | rs397508602 | 7 | 117,642,465 | C |
CFTR | G1349D | rs193922525 | 7 | 117,664,770 | A |
CFTR | G178E | rs397508748 | 7 | 117,534,319 | A |
CFTR | G178R | rs80282562 | 7 | 117,534,318 | A |
CFTR | G194R(G>A) | rs376008630 | 7 | 117,535,248 | A |
CFTR | G194R(G>C) | rs376008630 | 7 | 117,535,248 | C |
CFTR | G314E | rs75763344 | 7 | 117,540,171 | A |
CFTR | G551D | rs75527207 | 7 | 117,587,806 | A |
CFTR | G551S | rs121909013 | 7 | 117,587,805 | A |
CFTR | G576A | rs1800098 | 7 | 117,590,400 | C |
CFTR | G970D | rs386134230 | 7 | 117,606,674 | A |
CFTR | H1375P | rs397508678 | 7 | 117,664,848 | C |
CFTR | H939R | rs397508440 | 7 | 117,603,690 | G |
CFTR | I1027T | rs1800112 | 7 | 117,610,610 | C |
CFTR | I1139V | rs397508556 | 7 | 117,614,660 | G |
CFTR | I148T | rs35516286 | 7 | 117,531,068 | C |
CFTR | I175V | rs397508744 | 7 | 117,534,309 | G |
CFTR | I807M | rs1800103 | 7 | 117,592,588 | G |
CFTR | K1060T | rs397508513 | 7 | 117,611,620 | C |
CFTR | L1480P | rs758818611 | 7 | 117,667,104 | C |
CFTR | L206W | rs121908752 | 7 | 117,535,285 | G |
CFTR | L320V | rs144476686 | 7 | 117,540,188 | G |
CFTR | L967S | rs1800110 | 7 | 117,603,774 | C |
CFTR | L997F(G>C) | rs1800111 | 7 | 117,610,521 | C |
CFTR | L997F(G>T) | rs1800111 | 7 | 117,610,521 | T |
CFTR | M152V | rs397508721 | 7 | 117,531,079 | G |
CFTR | M952I(G>A) | rs151048781 | 7 | 117,603,730 | A |
CFTR | M952I(G>C) | rs151048781 | 7 | 117,603,730 | C |
CFTR | M952I(G>T) | rs151048781 | 7 | 117,603,730 | T |
CFTR | M952T | rs142773283 | 7 | 117,603,729 | C |
CFTR | P67L | rs368505753 | 7 | 117,509,069 | T |
CFTR | Q1291R | rs397508621 | 7 | 117,642,592 | G |
CFTR | Q237E | rs397508784 | 7 | 117,535,377 | G |
CFTR | Q237H | rs397508785 | 7 | 117,535,379 | C |
CFTR | Q359R | rs397508153 | 7 | 117,540,306 | G |
CFTR | R1070Q | rs78769542 | 7 | 117,611,650 | A |
CFTR | R1070W | rs202179988 | 7 | 117,611,649 | T |
CFTR | R1162L | rs1800120 | 7 | 117,627,538 | T |
CFTR | R117C | rs77834169 | 7 | 117,530,974 | T |
CFTR | R117G | rs77834169 | 7 | 117,530,974 | G |
CFTR | R117H | rs78655421 | 7 | 117,530,975 | A |
CFTR | R117L | rs78655421 | 7 | 117,530,975 | T |
CFTR | R117P | rs78655421 | 7 | 117,530,975 | C |
CFTR | R1283M | rs77902683 | 7 | 117,642,568 | T |
CFTR | R170H | rs1800079 | 7 | 117,534,295 | A |
CFTR | R347H | rs77932196 | 7 | 117,540,270 | A |
CFTR | R347L | rs77932196 | 7 | 117,540,270 | T |
CFTR | R352Q | rs121908753 | 7 | 117,540,285 | A |
CFTR | R553Q | rs121909044 | 7 | 117,587,812 | A |
CFTR | R668C | rs1800100 | 7 | 117,592,169 | T |
CFTR | R74W | rs115545701 | 7 | 117,509,089 | T |
CFTR | R75Q | rs1800076 | 7 | 117,509,093 | A |
CFTR | R792G | rs145449046 | 7 | 117,592,541 | G |
CFTR | R933G | rs397508436 | 7 | 117,603,671 | G |
CFTR | S1159F | rs397508573 | 7 | 117,627,529 | T |
CFTR | S1159P | rs397508572 | 7 | 117,627,528 | C |
CFTR | S1251N | rs74503330 | 7 | 117,642,472 | A |
CFTR | S1255P | rs121909041 | 7 | 117,642,483 | C |
CFTR | S549N | rs121908755 | 7 | 117,587,800 | A |
CFTR | S549R(A>C) | rs121908757 | 7 | 117,587,799 | C |
CFTR | S549R(T>G) | rs121909005 | 7 | 117,587,801 | G |
CFTR | S589N | rs397508300 | 7 | 117,590,439 | A |
CFTR | S737F | rs186089140 | 7 | 117,592,377 | T |
CFTR | S945L | rs397508442 | 7 | 117,603,708 | T |
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