| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28940569 |
G>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs34238807 |
G>-,GG |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs104894060 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs104894064 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs137852883 |
G>A,C,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs139003032 |
A>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs142269885 |
A>C,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs143730802 |
A>G |
Pathogenic |
Missense variant, initiator codon variant |
|
rs144495588 |
G>C,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs146579299 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs148417620 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs149308952 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs188259026 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs368365607 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs373957283 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs376910635 |
C>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs386834123 |
AAG>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs386834124 |
G>A |
Likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs386834125 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs386834126 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs386834127 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs386834128 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs386834130 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs386834132 |
CT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs386834133 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs386834134 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs386834135 |
TGG>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, inframe deletion |
|
rs386834136 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs386834138 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs386834139 |
G>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs554042394 |
T>A,G |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs564074916 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, synonymous variant, coding sequence variant |
|
rs587779411 |
C>G,T |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs746397087 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs746645358 |
G>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs750162094 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs755248868 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs756267448 |
G>T |
Likely-pathogenic |
Splice donor variant |
|
rs759153401 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs759830733 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs761621368 |
C>- |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs765097897 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs863224859 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057516582 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057516867 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1366421988 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554448874 |
T>C |
Likely-pathogenic |
Missense variant, initiator codon variant |
|
rs1554448924 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554449028 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554449047 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1554449124 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1554449136 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1554451484 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1554451504 |
T>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |