| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs29372 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs34591340 |
G>T |
Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs35530544 |
C>A |
Likely-benign, benign-likely-benign, pathogenic, benign |
Missense variant, coding sequence variant |
|
rs45602336 |
C>T |
Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs72544141 |
A>G |
Likely-benign, pathogenic, not-provided, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
|
rs121912705 |
C>A |
Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
|
rs121912706 |
C>T |
Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, intron variant |
|
rs140606121 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs142534126 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs144848998 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant |
|
rs147458476 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs148405740 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs150226540 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs150684838 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
|
rs180843436 |
G>A |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs193922637 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs199473346 |
T>A |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs199549660 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs370475820 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant |
|
rs528909081 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, intron variant |
|
rs556640912 |
G>A,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs755287627 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs761413864 |
A>G |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs770530257 |
CAC>-,CACCAC |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, inframe deletion, inframe insertion |
|
rs786205420 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs786205571 |
C>A |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs786205724 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs796052197 |
T>C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs796052198 |
T>C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1588354762 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1588487990 |
ATTG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |