| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs367963956 |
G>A,C |
Likely-pathogenic |
Intron variant |
|
rs756659230 |
G>A,C,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained, non coding transcript variant, missense variant |
|
rs773311942 |
G>A,C |
Likely-pathogenic |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
|
rs796052215 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs796052216 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs796052217 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs796052219 |
->AGTT |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs796052220 |
AG>- |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs796052221 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs864321667 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs864321668 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs864321671 |
AGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs864321672 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs864321673 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant |
|
rs864321674 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs864321675 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs869312833 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs869312834 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs869320763 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs869320764 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs879255404 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs886041669 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs886042027 |
TG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1057518113 |
C>T |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant |
|
rs1057518170 |
AT>- |
Uncertain-significance, pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs1057518799 |
->GATTGGCA |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1057519392 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1064794021 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1064794134 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1064795463 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1085307702 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs1131692270 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1135401798 |
C>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
|
rs1313319892 |
G>A,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs1553212204 |
A>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553212374 |
TA>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1553212545 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1553212626 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553212757 |
CAACATTCAGACAT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe indel, stop gained |
|
rs1553212868 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553212978 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553213060 |
GT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553213126 |
C>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553213240 |
G>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1553213268 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1553213659 |
T>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1553223544 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1557866540 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs1557901051 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs1557909170 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant |
|
rs1557909777 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs1557910873 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs1571321748 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1571321814 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1571323464 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1571323536 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1571326296 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1571326825 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1571328045 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1571332089 |
C>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant |
|
rs1571340772 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1571342521 |
A>C |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1571356820 |
->A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, intron variant |
|
rs1571427781 |
TC>A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1571464589 |
C>T |
Pathogenic |
Splice acceptor variant, intron variant |
|
rs1571470447 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant |
|
rs1571533545 |
C>A |
Pathogenic |
Splice acceptor variant, intron variant |