SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs104894501 |
G>A,C,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, 5 prime UTR variant, intron variant |
rs104894502 |
A>G,T |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs104894503 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs104894504 |
T>C |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant |
rs104894505 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant, intron variant |
rs144045691 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
rs199476305 |
G>C |
Likely-pathogenic, not-provided |
Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant |
rs199476306 |
C>T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant |
rs199476310 |
T>C |
Likely-pathogenic, not-provided |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
rs199476311 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs199476312 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
rs199476315 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
rs199476316 |
C>T |
Likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs199476317 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs199476319 |
A>G |
Pathogenic, not-provided |
Coding sequence variant, missense variant, non coding transcript variant |
rs199476321 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, genic downstream transcript variant, intron variant, missense variant |
rs397516363 |
G>A,T |
Likely-pathogenic |
Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant |
rs397516364 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant |
rs397516369 |
C>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
rs397516370 |
A>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
rs397516371 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs397516372 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
rs397516373 |
G>A |
Likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs397516376 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
rs397516386 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
rs397516391 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant |
rs397516486 |
C>G,T |
Likely-pathogenic |
Missense variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant |
rs532254032 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, intron variant |
rs727503518 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs727504264 |
G>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs727504290 |
G>C |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant |
rs727504389 |
A>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs730881128 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant, intron variant |
rs730881134 |
A>G,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs730881136 |
T>A,G |
Pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
rs730881140 |
A>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, intron variant |
rs730881146 |
G>A |
Pathogenic, uncertain-significance |
Splice donor variant, intron variant, genic upstream transcript variant |
rs730881151 |
G>T |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant |
rs730881157 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant |
rs730881159 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, intron variant |
rs730881160 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs754664923 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant |
rs757577112 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
rs876657662 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs879253758 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs886037905 |
G>A,C |
Likely-pathogenic |
Synonymous variant, missense variant, coding sequence variant, non coding transcript variant |
rs886039444 |
A>C |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant |
rs1064793284 |
G>C |
Likely-pathogenic |
Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
rs1114167355 |
A>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1114167356 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1114167357 |
T>C |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
rs1555408679 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1555409659 |
TACTCG>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, non coding transcript variant |
rs1596303148 |
A>G |
Likely-pathogenic |
5 prime UTR variant, genic upstream transcript variant, missense variant, intron variant, coding sequence variant |
rs1596386673 |
A>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |