| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs144574243 |
C>A,T |
Pathogenic |
Splice donor variant, intron variant |
|
rs183208638 |
G>A |
Conflicting-interpretations-of-pathogenicity |
3 prime UTR variant, non coding transcript variant, genic downstream transcript variant |
|
rs200598755 |
C>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, intron variant |
|
rs202146344 |
G>A |
Pathogenic, uncertain-significance |
Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
|
rs371549948 |
G>A,C |
Pathogenic |
Intron variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
|
rs587777251 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
|
rs587777252 |
T>C |
Pathogenic, likely-pathogenic |
Stop lost, coding sequence variant, downstream transcript variant, terminator codon variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs746891574 |
G>C |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
|
rs750093817 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, downstream transcript variant, intron variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs759541820 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
|
rs776720232 |
T>C,G |
Pathogenic |
Non coding transcript variant, missense variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs869312812 |
G>-,GG |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs869312813 |
C>A,T |
Pathogenic |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant |
|
rs869312814 |
T>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant |
|
rs869312815 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs869312816 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs869312817 |
A>G |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, downstream transcript variant |
|
rs1555610241 |
C>T |
Pathogenic |
Intron variant, splice donor variant |
|
rs1555610292 |
A>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant |
|
rs1567870911 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
|
rs1567871748 |
G>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
|