SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs34351171 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
rs76668544 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs104893915 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs104893916 |
G>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs104893917 |
G>A |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs104893918 |
C>T |
Likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs104893919 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs104893920 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs104893921 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
rs104893924 |
T>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs121908077 |
TGTTGT>-,TGT,TGTTGTTGT |
Pathogenic, likely-pathogenic |
Coding sequence variant, inframe deletion, inframe insertion |
rs121908078 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs200963884 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
rs267607055 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs377432261 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs386833492 |
T>C |
Pathogenic |
Splice donor variant |
rs386833493 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs386833494 |
AAAC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs386833495 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs386833496 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs386833497 |
G>- |
Likely-pathogenic, uncertain-significance |
Frameshift variant, coding sequence variant |
rs386833498 |
A>- |
Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
rs386833499 |
T>- |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs386833500 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs386833501 |
TT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs386833502 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs386833503 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs386833504 |
C>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs386833505 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs386833506 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs386833507 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs386833508 |
GATGGGC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs386833509 |
CT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs745774620 |
A>-,AA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs762137330 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs763198695 |
TG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs766836061 |
C>G,T |
Likely-pathogenic, pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs769657401 |
GTTT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs769859976 |
T>-,TT |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
rs786200881 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs786204675 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs875989951 |
A>C,T |
Pathogenic |
Coding sequence variant, missense variant |
rs1057517461 |
T>C |
Pathogenic |
Splice donor variant |
rs1057517462 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517471 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517474 |
ACTG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517482 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517483 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1057517495 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517496 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517502 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517504 |
->GCAGT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517511 |
->GTTAT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517513 |
AC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517514 |
C>G |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1057517523 |
C>G |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1057517524 |
GTCT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517526 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517530 |
AACT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1057517532 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1057518327 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1225601391 |
G>- |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1429562386 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1481910744 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095084 |
G>T |
Likely-pathogenic |
Initiator codon variant, missense variant |
rs1554095097 |
CA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095125 |
TT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095137 |
T>G |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1554095145 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095154 |
CCTT>- |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1554095156 |
T>G |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1554095167 |
AA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095266 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
rs1554095296 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095356 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095364 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1554095374 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095381 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095395 |
->CT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554095433 |
->CT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1561822760 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1581230727 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |