| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs2229010 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, synonymous variant |
|
rs41290704 |
C>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs139781017 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs140204495 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
|
rs143763229 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs143829263 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Synonymous variant, coding sequence variant |
|
rs145403829 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs146453412 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs149218670 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs150727558 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs189360006 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs193922955 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs201713621 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, missense variant |
|
rs374490206 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs551679833 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs577609846 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs749427996 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs752506833 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs764289801 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs767737417 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs773066265 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs775928044 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs797045023 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869320680 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886044452 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064793360 |
TTCGAGATCCACGTCCACAGGCGCCC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691506 |
TT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1334656238 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs1553648360 |
C>- |
Likely-pathogenic, benign |
Frameshift variant, missense variant, coding sequence variant |
|
rs1553652503 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553652513 |
TTCTCCATCGAGGT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553652751 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1553653948 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1575410562 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |