| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs122458140 |
G>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs122458141 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
|
rs122458142 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs122458143 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs122458144 |
T>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs122458145 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs122459146 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs122459147 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs122459148 |
T>G |
Pathogenic |
Terminator codon variant, 3 prime UTR variant, non coding transcript variant, stop lost |
|
rs122459149 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
|
rs267606811 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs267606812 |
A>G,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs267606813 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs367592190 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant |
|
rs747594885 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
|
rs768142579 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs786200914 |
G>A |
Pathogenic |
Intron variant, splice donor variant |
|
rs869025431 |
G>A,C |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs886044238 |
C>A |
Pathogenic-likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1060502840 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1064795702 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1556638935 |
->C |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1556639151 |
AGCTT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1556639352 |
A>G |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1556639379 |
->G |
Likely-pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1569530437 |
->ACCG |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1569530588 |
GT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, intron variant |
|
rs1603271580 |
->TCA |
Pathogenic |
Coding sequence variant, inframe insertion, non coding transcript variant |
|
rs1603271659 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1603272191 |
C>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, intron variant |
|
rs1603272223 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, intron variant |
|
rs1603272263 |
->TA |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, intron variant |
|
rs1603273685 |
->GTTT |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant |
|
rs1603273697 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant |