| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35103377 |
AA>-,A,AAA,AAAA,AAAAA |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs73198165 |
G>A,T |
Benign-likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant |
|
rs137852924 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
|
rs137852925 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs137852926 |
A>C |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
|
rs137852927 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
|
rs139129327 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
|
rs139936564 |
C>A,G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs143388379 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant |
|
rs144167138 |
G>A |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
|
rs145425340 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs145693546 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs146538906 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs146588335 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
|
rs150367317 |
C>A |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
|
rs150691722 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, missense variant, non coding transcript variant |
|
rs200300612 |
A>G |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs201083070 |
C>A,G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant |
|
rs202191109 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs367655073 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant |
|
rs376133710 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs544397395 |
G>T |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs548681312 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs556910528 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs557830930 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
|
rs587776568 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs730882232 |
->GCATTCAAAAAGTTCTTCTTTTTC |
Likely-pathogenic |
Inframe insertion, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs748820015 |
G>C,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant |
|
rs749251178 |
C>A,G |
Likely-pathogenic |
Splice acceptor variant |
|
rs750396637 |
CCCGGGC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs751356206 |
G>A |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs753581033 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs755789146 |
GCCGTGGTGCGGCAGAACCTGTGGAG>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, splice acceptor variant, intron variant |
|
rs756424912 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
|
rs760066386 |
T>C |
Likely-pathogenic |
Intron variant, splice acceptor variant |
|
rs760382778 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs761707323 |
C>A |
Pathogenic, uncertain-significance |
Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant |
|
rs762947212 |
C>A,G,T |
Likely-pathogenic |
Splice donor variant |
|
rs763363403 |
C>T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant |
|
rs767072839 |
T>A,C |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
|
rs769799880 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, splice acceptor variant |
|
rs769864196 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs770918273 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs771435248 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant |
|
rs772840335 |
TT>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
|
rs774416029 |
->A |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
|
rs777505711 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs778793911 |
AGCAGGGCCAGCAGCTGAG>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs779857359 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs781009014 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant, synonymous variant, upstream transcript variant |
|
rs781096099 |
A>C,G |
Likely-pathogenic |
Splice donor variant |
|
rs781623802 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs886037763 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs886037764 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, intron variant, stop gained, missense variant |
|
rs886044525 |
T>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant |
|
rs965707319 |
G>A,T |
Likely-pathogenic |
5 prime UTR variant, synonymous variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs981099037 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs992326794 |
->CCCCG |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant |
|
rs1159758018 |
TCCC>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1214848359 |
C>A |
Likely-pathogenic |
Upstream transcript variant, splice acceptor variant, genic upstream transcript variant |
|
rs1221185345 |
GATCCCGGGG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs1236566474 |
G>A |
Pathogenic |
Stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
|
rs1265421045 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1294715119 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1302074641 |
T>C,G |
Pathogenic |
Splice acceptor variant |
|
rs1305301849 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1307502841 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1420414097 |
CTCCGCCCCG>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, 5 prime UTR variant, frameshift variant |
|
rs1430962566 |
->A |
Likely-pathogenic |
Coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1431987950 |
TCTGCTTGATTGAAA>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, inframe indel |
|
rs1447633595 |
C>A,G,T |
Likely-pathogenic |
Splice donor variant |
|
rs1477102573 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant, intron variant |
|
rs1490912913 |
C>G,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553811863 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1553812417 |
G>TC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1553815019 |
C>T |
Likely-pathogenic, pathogenic |
Downstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1553818428 |
C>A,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553833239 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553836165 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1553836169 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553837446 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553840713 |
CC>G |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1553846613 |
G>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1553849875 |
->G |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1553849894 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553850677 |
C>A |
Likely-pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant |
|
rs1553851462 |
->A |
Likely-pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant |
|
rs1553851870 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553852469 |
C>- |
Likely-pathogenic |
5 prime UTR variant, splice donor variant, coding sequence variant, non coding transcript variant |
|
rs1553855074 |
->CCCGCCCCGC |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, intron variant, frameshift variant |
|
rs1553855127 |
->GGGGCGCCAGCGGGGACGTGAG |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant, upstream transcript variant, frameshift variant |
|
rs1553855151 |
->C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant, upstream transcript variant, frameshift variant |
|
rs1560121645 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1577093161 |
A>C,T |
Pathogenic |
Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1577093203 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1577093258 |
A>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1577095782 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1577170055 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|