| 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 |