| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34295241 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs76315093 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
|
rs80358229 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs80358230 |
C>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs117587497 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign |
Coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant, non coding transcript variant |
|
rs121908172 |
G>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs121908173 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs142106322 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs142639587 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant |
|
rs143301610 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs144095826 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs145994112 |
C>A,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs146579504 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs148058006 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign, benign-likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs199848479 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs370547023 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs540023880 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs564317065 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs572620317 |
T>A,C |
Pathogenic |
Synonymous variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs587776599 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs587776600 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs753723351 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, missense variant |
|
rs756457861 |
C>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
|
rs761633200 |
C>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs761721442 |
T>A |
Likely-pathogenic |
Splice donor variant |
|
rs763220502 |
G>A |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs767864243 |
C>T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs768848335 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs771028960 |
G>A |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs777604168 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs864309478 |
C>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs864309479 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs864309480 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs864309481 |
TAAC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1015798796 |
C>G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1064796832 |
GTTTGGGCCA>CC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |