| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs56030372 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs61729440 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894779 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894780 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894781 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894782 |
G>C,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894783 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894784 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894785 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs104894786 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122457137 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs201870761 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs267606317 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs587783518 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs587783519 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783520 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783521 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783522 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783523 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783524 |
TCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783525 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783526 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783527 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783528 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783529 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783530 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783531 |
G>A,T |
Likely-pathogenic |
Synonymous variant, missense variant, coding sequence variant |
|
rs587783532 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783533 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783534 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs587783535 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783536 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783537 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783538 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs587783539 |
A>G |
Pathogenic |
Missense variant, initiator codon variant, coding sequence variant |
|
rs587783540 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783541 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783542 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783544 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783545 |
C>- |
Pathogenic |
Splice acceptor variant, coding sequence variant |
|
rs587783546 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783547 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783548 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783549 |
TGT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs587783550 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783551 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783552 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783553 |
T>A,C |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs587783554 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783555 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783556 |
ACTGTTGCTGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783557 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783558 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783559 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783560 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783561 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783562 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783563 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs587783564 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783565 |
G>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783566 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783567 |
CACAGCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783568 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs587783569 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783570 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783571 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783572 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783573 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783574 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783575 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783576 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783577 |
C>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs587783578 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783579 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783580 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783581 |
T>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783582 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783583 |
TCA>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs587783584 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783585 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783586 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783587 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783588 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783589 |
C>T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs587783590 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783591 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783592 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783593 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs727503898 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs747557639 |
A>G,T |
Likely-benign, likely-pathogenic |
Synonymous variant, stop gained, coding sequence variant |
|
rs761786389 |
G>A |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs764964209 |
G>A,C |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs797045510 |
AA>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs797045512 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797045513 |
->GTA |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
|
rs797045514 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045515 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045518 |
->TCCATCCAGAGTGTA |
Pathogenic |
Inframe insertion, coding sequence variant |
|
rs797045519 |
->TAGGC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045520 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886039339 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs886041736 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064793735 |
C>- |
Pathogenic |
Coding sequence variant, splice donor variant |
|
rs1064794223 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307851 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1085307919 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556376311 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556401725 |
C>- |
Pathogenic |
Coding sequence variant, splice donor variant |
|
rs1556401744 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556401951 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1556404991 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556405057 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1556405065 |
CAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556405129 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1569497266 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569498597 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603423268 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |