| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121918307 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121918308 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918309 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918310 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121918311 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs182614164 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs200273673 |
C>G,T |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs267607024 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs267607025 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs387906891 |
C>T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs387906892 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs515726181 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs515726182 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs515726183 |
C>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs515726184 |
CTC>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, inframe deletion |
|
rs515726185 |
T>C,G |
Pathogenic |
Splice acceptor variant |
|
rs515726186 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726187 |
A>C,G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726188 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726189 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs515726190 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726191 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726192 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726193 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs515726194 |
A>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, synonymous variant |
|
rs515726195 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726196 |
A>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs515726197 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs515726198 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs515726199 |
A>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs515726200 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs515726201 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs515726202 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs776184830 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs863224191 |
G>A,C,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant, missense variant |
|
rs863224192 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs863224193 |
T>C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs863224194 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs863224914 |
->TTC |
Likely-pathogenic |
Coding sequence variant, inframe insertion |
|
rs1441534206 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1554610191 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1587178460 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1587186073 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1587186105 |
TT>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |