| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61735272 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs76048624 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs77110978 |
G>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs116908219 |
G>A |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs147356378 |
C>A,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Coding sequence variant, missense variant |
|
rs183007628 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs183130427 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Coding sequence variant, missense variant |
|
rs187423999 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, synonymous variant |
|
rs200271618 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs201047984 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs201148126 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs201370621 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign |
Coding sequence variant, missense variant |
|
rs267607001 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs267607002 |
C>A,T |
Pathogenic-likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs267607003 |
C>A,G,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs267607004 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs267607005 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs372064165 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs372567331 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs372923744 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs397516607 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs397516616 |
T>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs397516618 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs397516621 |
A>C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs540014314 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs554690506 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs563762318 |
G>A |
Likely-pathogenic, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
|
rs727504763 |
CC>G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs727504859 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs727505310 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs747880281 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs753102653 |
C>A,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs762069628 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs794729143 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs794729144 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs794729145 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs794729148 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs794729149 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs794729159 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs796734066 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
|
rs986602724 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs1114167331 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1265727354 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1554898987 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1564664312 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |