| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35916840 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs121917849 |
A>C |
Pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs121917850 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs121917851 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, stop gained, coding sequence variant |
|
rs143010236 |
C>T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, missense variant |
|
rs181109321 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Synonymous variant, coding sequence variant, intron variant |
|
rs397515377 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs397515378 |
A>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs397515379 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs397515523 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397515524 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, intron variant, stop gained |
|
rs397515525 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs397515526 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs758349851 |
T>C |
Likely-pathogenic |
Intron variant, splice acceptor variant |
|
rs760014795 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786204758 |
A>G,T |
Pathogenic, likely-pathogenic |
Initiator codon variant, missense variant |
|
rs886040963 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Intron variant, splice acceptor variant |
|
rs886040964 |
A>T |
Pathogenic |
Splice donor variant, intron variant |
|
rs982650476 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1008240677 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1057516423 |
T>A |
Likely-pathogenic |
Stop gained, coding sequence variant, intron variant |
|
rs1057517448 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs1408863841 |
T>A,C |
Likely-pathogenic |
Missense variant, initiator codon variant |
|
rs1554523526 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1554524061 |
TCC>AAT |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1554525125 |
CTTCCCGGGCCCGGCGCCGCAGCGCCGCCAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554525128 |
GCCGCAGCGCCGCCAGGCCCGGC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554605498 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1554605631 |
CT>ACTTAC |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1563363293 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1563678770 |
CA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1563678790 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |