| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121908567 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs121908568 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs138287857 |
G>A |
Likely-pathogenic, likely-benign, benign-likely-benign |
Coding sequence variant, missense variant |
|
rs139316692 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Coding sequence variant, synonymous variant |
|
rs139871607 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
|
rs140344858 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs140510381 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Coding sequence variant, missense variant |
|
rs141655687 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Coding sequence variant, synonymous variant, missense variant |
|
rs142476324 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs142670753 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
|
rs143571197 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs145007501 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Coding sequence variant, missense variant |
|
rs145717795 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
|
rs148765149 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs149764887 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs200201811 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
|
rs201531372 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs267606674 |
C>-,CC |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
|
rs367624903 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
|
rs376052287 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs570443161 |
GGTGGTGGT>-,GGTGGT,GGTGGTGGTGGT,GGTGGTGGTGGTGGT |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, inframe insertion, inframe deletion |
|
rs730882193 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
|
rs748632114 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs752881223 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs762279806 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs771001164 |
CTCT>-,CT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs772461187 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs773157765 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs775783026 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs978837790 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1056103847 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1299440644 |
A>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
|
rs1309148182 |
C>T |
Likely-pathogenic |
Splice acceptor variant, intron variant |
|
rs1555577613 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555577625 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555583659 |
CG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1567754914 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1567755946 |
->CGCGGGAGGCAGC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1567769335 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1598093952 |
AAGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598097196 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1598104209 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1598118962 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598119841 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1598119889 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |