SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs857716 |
C>A,G,T |
Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
rs857725 |
T>A,C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant |
rs2022057 |
G>A,T |
Likely-benign, benign, likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, synonymous variant |
rs3737515 |
G>A,C |
Likely-benign, benign-likely-benign, likely-pathogenic |
Coding sequence variant, synonymous variant, intron variant, genic downstream transcript variant, missense variant |
rs7418956 |
G>A,T |
Pathogenic, likely-benign, benign |
Coding sequence variant, non coding transcript variant, synonymous variant, missense variant |
rs28525570 |
G>A,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, genic downstream transcript variant |
rs35948326 |
G>T |
Pathogenic, benign, benign-likely-benign, likely-benign |
Coding sequence variant, missense variant, non coding transcript variant |
rs41273519 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, synonymous variant, missense variant, genic downstream transcript variant |
rs116297260 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918634 |
A>C,G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918635 |
T>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918636 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918637 |
C>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918638 |
C>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918639 |
G>A |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918640 |
G>A,T |
Pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
rs121918641 |
C>A,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918642 |
G>A,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918643 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs121918644 |
T>C |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
rs138055271 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs142775522 |
T>G |
Likely-pathogenic, uncertain-significance, likely-benign, benign |
Coding sequence variant, genic downstream transcript variant, missense variant |
rs145054175 |
T>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
rs148912436 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant, non coding transcript variant |
rs377659326 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
rs752114200 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, downstream transcript variant, missense variant, synonymous variant, genic downstream transcript variant |
rs754614154 |
T>C,G |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
rs757147440 |
A>C,G |
Pathogenic |
Intron variant |
rs757679761 |
->AAC |
Pathogenic, likely-pathogenic |
Inframe insertion, coding sequence variant, non coding transcript variant |
rs774632615 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs863223305 |
C>T |
Pathogenic |
Splice acceptor variant |
rs886041244 |
T>A,C |
Pathogenic |
Stop gained, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant |
rs1035389616 |
C>T |
Pathogenic |
Splice donor variant |
rs1064795113 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs1131691810 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs1394141324 |
G>A |
Pathogenic |
Coding sequence variant, downstream transcript variant, genic downstream transcript variant, stop gained, non coding transcript variant |
rs1462060431 |
C>A,G |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
rs1553231217 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs1553232007 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, synonymous variant |
rs1553234309 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1557961718 |
C>T |
Pathogenic |
Intron variant |
rs1571436535 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs1571530070 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
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