| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs6711223 |
G>A,T |
Likely-benign, pathogenic, benign |
Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant |
|
rs111724246 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs137852980 |
T>A,G |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs137852981 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs137852982 |
G>A,C |
Pathogenic |
Missense variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs137852983 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs139944383 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs141674976 |
C>A,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs146394306 |
G>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs147693839 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs149882004 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Missense variant, coding sequence variant, synonymous variant, non coding transcript variant |
|
rs185223937 |
T>A,C |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, coding sequence variant |
|
rs199951665 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs201109457 |
T>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs397515448 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs397515449 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs398124274 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs398124275 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs398124276 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs398124277 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs398124278 |
->GAGT |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs398124280 |
AGTACC>CATTA |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs398124281 |
TAGCCCCGGTCGCAGTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs398124282 |
A>G |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs398124283 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs398124284 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs587776603 |
GTTT>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776604 |
->T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776605 |
TG>-,TGTG |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776606 |
->A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776607 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776608 |
->CA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776609 |
->GG |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776610 |
TGT>- |
Pathogenic, uncertain-significance |
Inframe deletion, genic downstream transcript variant, coding sequence variant |
|
rs587776611 |
A>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776612 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs587784563 |
G>A,T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs587784565 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587784566 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs587784568 |
TGGCGTGCCAAGGCGAGAC>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs587784570 |
G>A,C |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, missense variant |
|
rs587784571 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs727503784 |
A>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs727504223 |
G>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs727504224 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, genic downstream transcript variant, coding sequence variant, missense variant |
|
rs727504226 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs727504228 |
C>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs730881186 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, intron variant |
|
rs730881208 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs730881209 |
A>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs730881211 |
GA>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs730881212 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs730881213 |
->T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs730881215 |
TAGCTGGACTCGT>AAC |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs730881217 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs730881218 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs756686919 |
G>A,C,T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, missense variant |
|
rs778851716 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs786200997 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786203990 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786203991 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786203992 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786203993 |
C>A |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs786204801 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204802 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786204803 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204804 |
->GT |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204805 |
TGGTTCTGTTT>CATTAATTTTAAGTCA |
Pathogenic |
Coding sequence variant, inframe indel, stop gained, genic downstream transcript variant |
|
rs786204806 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204807 |
A>C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs786204808 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs786204809 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204810 |
AA>-,A |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204811 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204812 |
AGAGCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204813 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, splice donor variant |
|
rs786204814 |
CCTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204815 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs786204816 |
CCCTCGGCAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204817 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204818 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204819 |
T>- |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs786204820 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs786204821 |
AAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs794727924 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
|
rs797046117 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs797046118 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs797046119 |
AGTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs797046120 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs797046121 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs797046122 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs863224942 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs878853016 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs878855329 |
GGTTTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs886039655 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs886041338 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs886041489 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant |
|
rs886041601 |
->TG |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs886041698 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs886041989 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs886044396 |
A>T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1057518156 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1057518185 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1057518193 |
TCAT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1060499770 |
ACCCTCC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1060500653 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1114167349 |
T>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1131691309 |
->A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs1131691714 |
C>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1131691756 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1131691912 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1135401790 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1135402759 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1423851170 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1553960776 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553960778 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553960788 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1553960793 |
T>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553961332 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961343 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961487 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961510 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961516 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553961580 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961585 |
->GGAG |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961598 |
->TGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel |
|
rs1553961610 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553961655 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553961660 |
G>C |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553961695 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961697 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961702 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553961705 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553961746 |
GTTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961747 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553961749 |
->AAGT |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel |
|
rs1553961777 |
T>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553962048 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553962069 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1553962198 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553964145 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553964147 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553971826 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1560602156 |
G>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1560602214 |
A>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1560604977 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1560605892 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1560606294 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1560606974 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1560607925 |
T>C |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1560609721 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1560609810 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1560618505 |
A>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, intron variant, stop gained |
|
rs1560620837 |
GGCA>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1573708153 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1573708180 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573713430 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1573713477 |
ATACATGC>- |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1573715510 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573716158 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1573716795 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1573717173 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573717593 |
GAAGAA>TTCTT |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573717685 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573718595 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1573718600 |
TC>AT |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1573718630 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573721065 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573721242 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573722122 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573722407 |
CTGAT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573743888 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1573743951 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |