| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs56378658 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs78118111 |
G>A,C |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs113607507 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Genic upstream transcript variant, intron variant |
|
rs150378280 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs199988497 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs201754358 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, missense variant, 5 prime UTR variant |
|
rs368822172 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, intron variant, missense variant, genic upstream transcript variant |
|
rs371602931 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs387906782 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant |
|
rs761508149 |
G>A,C |
Likely-pathogenic |
Stop gained, genic upstream transcript variant, missense variant, coding sequence variant |
|
rs778050996 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs886229659 |
G>A,C |
Pathogenic |
Intron variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs928811814 |
G>A |
Likely-pathogenic |
Intron variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs1060502531 |
TATGC>- |
Likely-pathogenic |
Intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1382893400 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1430822242 |
C>T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1553780501 |
A>C |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant, intron variant |
|
rs1553781304 |
G>A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1553785222 |
->G |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1553787619 |
C>A |
Pathogenic |
Genic upstream transcript variant, intron variant |
|
rs1553787823 |
->GCTTTCC |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1576401641 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs1576422965 |
C>A |
Pathogenic |
Intron variant, missense variant, coding sequence variant, genic upstream transcript variant |
|