| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs1800556 |
C>T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs28940872 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs28940875 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
| rs28941773 |
C>T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs57443665 |
T>C,G |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs61732144 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs117356004 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs121908003 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs121908006 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs140853839 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs147442301 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs149107232 |
G>A,C |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
| rs183161718 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs202124189 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs368469075 |
G>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs374726386 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs387906308 |
GAG>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, inframe deletion |
| rs387906950 |
A>G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs537072819 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs539219309 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs541587321 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained |
| rs746368198 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs749491616 |
C>G,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained, synonymous variant |
| rs750941135 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs752677472 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs753758429 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs765758808 |
->CGGGCCC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs766579880 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, intron variant |
| rs767155955 |
A>C,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs767774362 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, stop gained |
| rs780571371 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs786204691 |
GA>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs796051902 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs796051905 |
G>T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs796051906 |
CGC>TGT |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs932525260 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs1001298373 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1057516231 |
A>G |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs1057516385 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1057516421 |
TG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1057516436 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1057516566 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1057516606 |
->C |
Conflicting-interpretations-of-pathogenicity |
Frameshift variant, coding sequence variant |
| rs1057516639 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs1057516685 |
TT>- |
Likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant |
| rs1057516733 |
TCCAGACATGC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1057516848 |
C>A |
Likely-pathogenic |
Intron variant, stop gained, coding sequence variant |
| rs1057516967 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1057517155 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1064793612 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1064795254 |
CGT>TGC |
Pathogenic |
Missense variant, coding sequence variant |
| rs1226857910 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1291226969 |
A>G |
Likely-pathogenic |
Initiator codon variant, missense variant |
| rs1555244280 |
GC>AT |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1555244366 |
G>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
| rs1555244367 |
G>A,T |
Likely-pathogenic |
Splice donor variant |