| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs77820367 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs111033542 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs121964959 |
C>A,T |
Pathogenic-likely-pathogenic, likely-benign |
Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs121964960 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs121964961 |
A>G,T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs145628302 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs150555106 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs186031457 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs186710233 |
C>A,T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs199769617 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs202247817 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs202247818 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs202247819 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs202247820 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs202247821 |
->CCC |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, inframe insertion |
|
rs202247822 |
T>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs202247823 |
A>G |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs374722096 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397507445 |
GGGCATCATCCGGC>TAGAGCACAGGA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs398123460 |
G>A |
Pathogenic |
Splice donor variant |
|
rs398123462 |
T>A |
Pathogenic |
Initiator codon variant, missense variant |
|
rs398123463 |
TT>AAC |
Pathogenic |
Coding sequence variant, stop gained |
|
rs398123464 |
G>A |
Pathogenic |
Initiator codon variant, missense variant |
|
rs572246667 |
C>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs587776758 |
TT>-,TTT |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, downstream transcript variant, frameshift variant |
|
rs746102997 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs748393514 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs749908889 |
C>G,T |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, missense variant |
|
rs751538672 |
C>T |
Pathogenic-likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs752377212 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs753981900 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs754664563 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs755776820 |
TT>- |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs756414710 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs758309460 |
T>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs768935968 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs769521436 |
A>G |
Pathogenic-likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs769968548 |
->C,CC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs774249198 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs777027944 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs777455573 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs778742647 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs781556055 |
A>C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs786200983 |
T>-,TT |
Pathogenic |
Frameshift variant, stop gained, coding sequence variant |
|
rs794727092 |
G>C,T |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs796052021 |
->G |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs796052022 |
A>- |
Pathogenic |
Splice acceptor variant |
|
rs796052023 |
TGA>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs797044729 |
->AAGATCTGCAAA |
Pathogenic |
Inframe insertion, coding sequence variant |
|
rs879253813 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs879253814 |
T>C |
Pathogenic-likely-pathogenic |
Splice donor variant |
|
rs879253815 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs879253816 |
T>C |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs886044246 |
G>A |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs1021206121 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1196443543 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1249235758 |
CTTTCT>- |
Pathogenic |
Intron variant, genic downstream transcript variant, downstream transcript variant |
|
rs1292452485 |
T>C,G |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs1304714042 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1317017233 |
G>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs1353971489 |
TTG>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs1385850128 |
G>T |
Pathogenic |
Splice donor variant |
|
rs1391142709 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553774015 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553774018 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553774884 |
G>-,GG,GGG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553777571 |
->GG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553777590 |
G>C |
Likely-pathogenic |
Splice donor variant |
|
rs1553778912 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1553778914 |
T>A,G |
Likely-pathogenic |
Splice donor variant |
|
rs1553779458 |
G>C |
Likely-pathogenic |
Splice donor variant |
|
rs1553780163 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553782747 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553782779 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs1553784569 |
->T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1553784684 |
A>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1553784721 |
TTGCAGT>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1553784921 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1559995259 |
ACTAAATTGTCTGTGATGACATCACTGAGTGATCTTTGTTCCATTGTAGGGAAA>TGCTTTGCTTGCTTTGCTTTGCTTT |
Pathogenic |
Splice acceptor variant, intron variant, coding sequence variant |
|
rs1576327011 |
A>G |
Pathogenic |
Intron variant |
|
rs1576337935 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1576360488 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1576360539 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1576360934 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1576360976 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1576361811 |
->ATGT |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1576397633 |
GCGC>CCT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1576402832 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |