| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35068278 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
|
rs119103219 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs119103220 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs119103221 |
C>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs119103223 |
G>C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs119103225 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs119103226 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs140806722 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs141030969 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs147903984 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs148773718 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
|
rs150591260 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant |
|
rs398124372 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs587776533 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs727504010 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs730880265 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs748028684 |
C>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs757052602 |
A>T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs763293192 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, 3 prime UTR variant, non coding transcript variant, genic downstream transcript variant |
|
rs766753795 |
A>G |
Pathogenic |
Intron variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs770769655 |
->C |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
|
rs770917710 |
A>G |
Likely-pathogenic |
Intron variant |
|
rs773774134 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs776559643 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs780011606 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs780304038 |
CA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs797044772 |
CAGA>TTGTCGAGGTAAGTGT |
Likely-pathogenic |
Coding sequence variant, inframe indel, non coding transcript variant |
|
rs886043524 |
G>A |
Likely-pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, missense variant |
|
rs886060738 |
A>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant |
|
rs1184301452 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs1190325113 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1554134061 |
TG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554137532 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554138265 |
T>C |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1580273474 |
G>T |
Likely-pathogenic |
Splice donor variant |
|
rs1580280976 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1580319814 |
GA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |