| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs104893848 |
T>A,C |
Pathogenic, not-provided |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant |
| rs398124185 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs527236079 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs761717462 |
AA>-,AAA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs765063151 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs768255532 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
| rs779996159 |
C>A,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant, stop gained |
| rs786205644 |
TGTTGGCCCT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs878853351 |
G>A |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1560870755 |
AT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1578860254 |
->GC |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1578860322 |
T>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|