| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34761938 |
A>G,T |
Pathogenic, uncertain-significance |
Intron variant, non coding transcript variant, coding sequence variant, stop gained, missense variant |
|
rs35991093 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs41301481 |
T>A,C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs72705400 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
|
rs137974620 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs139539448 |
T>C |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs140070005 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs141259390 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs141553918 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs148261539 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs149079426 |
G>A,C |
Uncertain-significance, pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs199768095 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs267607138 |
G>A,T |
Pathogenic |
Synonymous variant, 5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs745372938 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs750602133 |
CT>- |
Pathogenic |
5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs764561670 |
CTTT>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs776935608 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs780625551 |
G>A,C |
Pathogenic, likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs863223281 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1045076800 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs1053206465 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1085307101 |
TTAT>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1274744069 |
TCTT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1294029121 |
TTGA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1400419650 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, missense variant |
|
rs1420691965 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1429820082 |
CTCT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555386022 |
C>A |
Pathogenic |
Splice donor variant |
|
rs1566843321 |
T>C |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs1566859264 |
CT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1566859649 |
TT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1566860640 |
TA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1566863801 |
C>A |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs1566867763 |
AG>- |
Pathogenic |
5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1595387492 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |