| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs121434610 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs150564614 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs267607076 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs371972467 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs397515381 |
G>A |
Pathogenic |
Intron variant |
| rs397515549 |
T>A,C |
Pathogenic |
Synonymous variant, missense variant, intron variant, coding sequence variant |
| rs397515550 |
G>A |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs397515551 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs397515552 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs397515553 |
A>C,G |
Pathogenic |
Missense variant, coding sequence variant |
| rs1064794901 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1556001304 |
A>T |
Likely-pathogenic, not-provided |
Missense variant, coding sequence variant |
| rs1602210346 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs1602220706 |
TGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |