| 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 |