| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs79970603 |
T>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs118203938 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs118203939 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs118203940 |
A>G |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs118203941 |
C>T |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs118203942 |
C>G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs118203943 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs118203944 |
T>C,G |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs140923667 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, missense variant, coding sequence variant, non coding transcript variant |
|
rs147495977 |
G>A,C |
Benign, likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant, non coding transcript variant |
|
rs150087888 |
C>G,T |
Likely-benign, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs200188234 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs200793396 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic |
Coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant, non coding transcript variant |
|
rs201101343 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs367650121 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs371886102 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs397514441 |
A>C,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs398123123 |
GCCGGCTGGCCCCGGCG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs398123125 |
C>A |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs431905493 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs431905494 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs431905495 |
C>G |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs431905496 |
A>C |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
|
rs555785323 |
C>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs727503809 |
C>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs746206847 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs746396210 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs748454316 |
C>A,G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs749015246 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs749465732 |
A>C,G |
Pathogenic-likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs749989641 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs750845916 |
A>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs756671977 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs757061042 |
C>T |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs759384989 |
C>A,T |
Likely-pathogenic |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
|
rs762614315 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs765711776 |
G>A,C |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs766772376 |
->GTGGGGCGGCCGGCTGG |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs766914147 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs768012515 |
A>C |
Pathogenic, uncertain-significance |
Downstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs769996056 |
G>A,T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, missense variant |
|
rs771113472 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs771296632 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs773460207 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, missense variant |
|
rs773492223 |
G>A,C,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
|
rs774358117 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs776814144 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs778868348 |
C>G,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs781510986 |
A>G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs886039914 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs891298440 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained |
|
rs991104525 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1028653411 |
CCCGAGCCCGGCG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1057520739 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant |
|
rs1064793026 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1064793027 |
T>A |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1167459660 |
->C |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1171277553 |
T>C |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant |
|
rs1179935748 |
T>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1196325597 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1209412483 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs1211360114 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1251438062 |
G>C,T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1255777033 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1299207831 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs1408739927 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1465993279 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1484763838 |
A>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1554032090 |
A>C,G,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554032094 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554032095 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554032099 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
|
rs1554032110 |
TGCAC>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032118 |
->T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032122 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032129 |
A>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554032131 |
TC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032134 |
GAGCACC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032145 |
GCCGCCAGCG>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032153 |
G>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032155 |
AGGTGCGG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032160 |
->CGTGCGG |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032196 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032216 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554032217 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554032220 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554032222 |
A>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554032243 |
GGCCCCGG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554032252 |
G>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554069660 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554069668 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554069669 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554069786 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant |
|
rs1554069791 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant |
|
rs1554069793 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1554069808 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1554074118 |
A>G |
Pathogenic |
Intron variant, genic downstream transcript variant |
|
rs1554074124 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1554074132 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
|
rs1554074135 |
->G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1554079265 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554079268 |
A>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554079284 |
A>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554079296 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554079302 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554079312 |
A>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554079318 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554079320 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554086368 |
A>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554086370 |
->AA |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554086414 |
A>C,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554086417 |
AGTAT>CTTCAGG,CTTGACTTCAGG |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554087395 |
TA>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554087406 |
GTTGAAT>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554087423 |
A>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554087439 |
T>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554087441 |
G>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554087445 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554088002 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554088079 |
A>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554088081 |
->A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554088099 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554089838 |
GGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTAG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, splice donor variant, intron variant |
|
rs1561197425 |
GCCGCCAGCGCG>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1580121683 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |