| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs122454122 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122454123 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs387906702 |
A>G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs587784403 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587784404 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784405 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784408 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs587784409 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587784410 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784412 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784415 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784416 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs587784418 |
T>C |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784419 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784420 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784421 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587784422 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587784423 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs727503773 |
TCT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs727503774 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs727503776 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs781817340 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs797044896 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797045069 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045991 |
CTT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs797045993 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs863225458 |
GACT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs863225459 |
->GGCC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs868985177 |
A>C,G |
Pathogenic |
Splice donor variant |
|
rs869312954 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886041902 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886044819 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886044851 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057518054 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057518670 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057519398 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057519499 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057520375 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057521921 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057522040 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057524798 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795049 |
C>T |
Likely-pathogenic |
Intron variant |
|
rs1556885810 |
T>C,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs1556885815 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556886034 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556886124 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556886127 |
TGGCCTTCATGTTGGGGGCGGCAATAC>CTGCA |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556887777 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556888010 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556888550 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1556889236 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1556889269 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556890135 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1556890139 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556890815 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1556891059 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556891104 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1569351341 |
GAGGTCGAAGGT>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1569351534 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1569351907 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569356550 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1569356555 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569358628 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1569358774 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1569359048 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569359535 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1569359540 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1602398950 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1602404847 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602405588 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1602407457 |
GGT>- |
Pathogenic |
Coding sequence variant, inframe indel |
|
rs1602409271 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1602411858 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602413582 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained |