| 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 |