| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61745524 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs119103283 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs119103284 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs138444697 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs144109267 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs146494374 |
C>A,G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs199476182 |
G>A |
Pathogenic |
Splice donor variant |
|
rs199476183 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs199476184 |
TGACAGCAGGTTACAG>- |
Pathogenic |
Coding sequence variant, splice acceptor variant, intron variant |
|
rs199476186 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs199476187 |
G>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs199476188 |
T>G |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs199476189 |
G>T |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs199476190 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476191 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476192 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs199476193 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476194 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs199476195 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476196 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476197 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476198 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs199476199 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476200 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476201 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476202 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476203 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476204 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs199476205 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs207482233 |
TCATACAGGTCATCGCT>GC |
Pathogenic, uncertain-significance |
Coding sequence variant, splice acceptor variant, intron variant |
|
rs797045181 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1561430786 |
TT>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1579976512 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |