| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35068710 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs35313369 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant |
|
rs62089120 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs112327299 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, genic upstream transcript variant |
|
rs149233888 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, coding sequence variant, synonymous variant |
|
rs200600259 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant |
|
rs201253231 |
A>G |
Likely-pathogenic |
Missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs318240757 |
T>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs374274442 |
C>A,G,T |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, splice donor variant |
|
rs563328673 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs759249497 |
G>A,T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
|
rs775277800 |
C>G,T |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs780270096 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs797044691 |
->T |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, intron variant, coding sequence variant |
|
rs864321620 |
T>C |
Likely-pathogenic, pathogenic |
Intron variant |
|
rs864321621 |
T>G |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs886039611 |
A>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs886041460 |
CT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, intron variant |
|
rs932327641 |
G>A |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant |
|
rs1131691284 |
T>A,G |
Likely-pathogenic |
5 prime UTR variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1256028809 |
A>T |
Pathogenic |
Intron variant, genic downstream transcript variant |
|
rs1465962355 |
C>A,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs1555704436 |
CT>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
|
rs1555707336 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1555717153 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant |
|