SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs35857705 |
AAA>-,A,AA,AAAA,AAAAA,AAAAAA |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
rs61926078 |
C>A,G,T |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs113542001 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs141281214 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Splice acceptor variant, intron variant |
rs149319186 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs184123387 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs193922683 |
G>A |
Uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant |
rs201226082 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs373890183 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, synonymous variant |
rs374659816 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, 5 prime UTR variant |
rs387907208 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs387907209 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
rs387907210 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs387907211 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs387907227 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs387907228 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs387907229 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs387907230 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
rs760889253 |
G>A,T |
Likely-pathogenic |
Missense variant, synonymous variant, coding sequence variant |
rs764155671 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs786205475 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1001916923 |
A>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1024095026 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1057516044 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057521640 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1131691589 |
A>G |
Likely-pathogenic |
Splice donor variant |
rs1555100687 |
A>G |
Likely-pathogenic |
Splice donor variant |
rs1565477732 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1592166720 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |