| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs753533374 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs786205859 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs878854401 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs878854402 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057517933 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057518063 |
A>T |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1057524343 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795100 |
A>C |
Likely-pathogenic |
Splice donor variant |
|
rs1064795118 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795543 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795585 |
A>G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1135401760 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1332539430 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1462665726 |
GGCAGCTGCAGCAGCTGC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1553808267 |
->TGT |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
|
rs1553808301 |
A>C,G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553810149 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553810244 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553810255 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553810269 |
TCA>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1553810271 |
ACA>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1553810281 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553813646 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1560098548 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1560117033 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1576978878 |
->TGCC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1576982808 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1576993654 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1576993734 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1576994053 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1576994101 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1577017863 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1577018466 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1577029136 |
->GCTGCAGCTGCGGCAGCTGCAGCAGCTGCTG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1577029680 |
G>A |
Likely-pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |