| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs117157204 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs117600063 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, intron variant |
| rs121909118 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs121909119 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
| rs143518519 |
G>A |
Benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, coding sequence variant |
| rs143558324 |
G>A,C |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant |
| rs147159813 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant |
| rs147324129 |
A>G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs200053119 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, intron variant, stop gained |
| rs368869126 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs727502772 |
C>A |
Pathogenic |
Splice donor variant |
| rs727502773 |
->CT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
| rs727502781 |
T>G |
Pathogenic |
Splice acceptor variant |
| rs727502782 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs727502783 |
->A |
Pathogenic |
Splice donor variant |
| rs755903502 |
T>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs758857853 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs774271963 |
C>T |
Pathogenic |
Intron variant |
| rs796052949 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs886041073 |
T>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
| rs886041074 |
T>G |
Pathogenic |
Intron variant, splice acceptor variant |
| rs886041075 |
GGTAA>- |
Pathogenic |
Coding sequence variant, intron variant, stop gained, inframe indel |
| rs886041076 |
C>G,T |
Pathogenic |
Intron variant, splice donor variant |
| rs886041077 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886041078 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886041079 |
TGGATC>GGTGCATGCAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs995674389 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1553948516 |
->G |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs1578733075 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |