| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs139076605 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
| rs140367649 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, synonymous variant |
| rs141281093 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs142424896 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs142756900 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs143355299 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs143536408 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs143678590 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs144766991 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs147306623 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs147551342 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, initiator codon variant, coding sequence variant |
| rs199996353 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs200173000 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Missense variant, coding sequence variant |
| rs200910140 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs201156458 |
G>A |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs201908490 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs369983077 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs370046449 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, 5 prime UTR variant, coding sequence variant, intron variant, genic upstream transcript variant, upstream transcript variant |
| rs370155559 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs370521183 |
C>A,G,T |
Likely-benign, pathogenic, likely-pathogenic |
Missense variant, synonymous variant, coding sequence variant |
| rs370580872 |
G>A,T |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs371135108 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs374975940 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs397515403 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs397515405 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs397515406 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs397515407 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs545094921 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs558966732 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant, 5 prime UTR variant, synonymous variant |
| rs587777264 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs747317425 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs752032951 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant |
| rs752453368 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs752514808 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
| rs757811625 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs761045901 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs769406687 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs773575309 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs774588571 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs780875110 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs796214553 |
AG>- |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, frameshift variant |
| rs797044544 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
| rs866242631 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs886039397 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs886041691 |
A>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs886044717 |
T>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs1023136319 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1057518066 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1057519544 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1057522914 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1057522923 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1057522978 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1060503696 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs1064794752 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1064795013 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1193627908 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554771469 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554771476 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554774322 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554774362 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554778082 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1564367605 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1588344733 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs1588359968 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |