| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs41286130 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs114400765 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs114688149 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs114837786 |
C>A,G,T |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, missense variant, synonymous variant, coding sequence variant |
|
rs121434355 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs139804851 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs140101984 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
|
rs142322683 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs143044921 |
G>A,T |
Risk-factor, likely-pathogenic, uncertain-significance, benign |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs145657148 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs146685625 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs148794835 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, intron variant |
|
rs150154438 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, synonymous variant |
|
rs749834830 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs752032044 |
CA>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs757243985 |
G>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs765324128 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs767978562 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs775394591 |
TCT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs776269575 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs863223346 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs886043213 |
->T |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs939534674 |
C>A,T |
Pathogenic |
Non coding transcript variant, synonymous variant, stop gained, coding sequence variant |
|
rs1555261304 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1555261576 |
C>T |
Risk-factor |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1566133616 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1566169711 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |