SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1801202 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs137852223 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs137852224 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs137852226 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852227 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs137852228 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs137852229 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852230 |
A>G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852231 |
A>C |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852232 |
C>G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852233 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852234 |
A>G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852235 |
G>C |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852236 |
A>G,T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852237 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852238 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137852239 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs137852240 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852241 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137852243 |
G>A,C,T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852244 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs137852245 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852246 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
rs137852247 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs137852248 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
rs137852249 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137852250 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs137852251 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs137852252 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852253 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852254 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs137852255 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852256 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852257 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs137852258 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs137852259 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137852260 |
T>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs137852261 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
rs137852262 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs137852263 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852265 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852266 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852267 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137852268 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852269 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852270 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
rs137852271 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852272 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
rs137852273 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852274 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137852275 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137852276 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852277 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs137852278 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852279 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
rs137852280 |
T>A,G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs137852281 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
rs137852283 |
G>C,T |
Pathogenic |
Coding sequence variant, missense variant |
rs144314232 |
G>A |
Likely-pathogenic |
Intron variant, synonymous variant, coding sequence variant |
rs148060786 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs150190385 |
A>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
rs267606792 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs387906474 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs387906475 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs387906477 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs387906478 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs387906479 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs387906480 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
rs387906481 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs387906482 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs398122990 |
A>G |
Pathogenic |
Intron variant |
rs587776735 |
T>C |
Pathogenic |
Splice donor variant |
rs587776736 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs749754992 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs753654616 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs757996262 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs762229532 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
rs1166164399 |
G>A |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant |
rs1216516070 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
rs1234002716 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
rs1266788575 |
G>A |
Pathogenic |
Intron variant |
rs1275708479 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs1317977313 |
A>G |
Pathogenic |
3 prime UTR variant |
rs1351675410 |
G>A |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
rs1385141619 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1434866164 |
G>A,C |
Pathogenic |
Splice acceptor variant |
rs1479241411 |
G>A,T |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant |
rs1556006174 |
->A |
Likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant |
rs1556008316 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1556008584 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1556435929 |
T>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1556435940 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1556437035 |
G>A |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
rs1569333062 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1569481966 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1603263374 |
TCA>AT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1603263376 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1603263395 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
rs1603263397 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs1603263399 |
GTTT>- |
Likely-pathogenic |
Splice donor variant, intron variant |
rs1603263401 |
G>T |
Likely-pathogenic |
Intron variant |
rs1603264205 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1603264236 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1603264246 |
AC>- |
Pathogenic |
Coding sequence variant, stop gained |
rs1603264299 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
rs1603264300 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1603264719 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
rs1603264727 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
rs1603264736 |
GAAAGA>AAAGG |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
rs1603265480 |
G>C |
Pathogenic |
Splice acceptor variant, intron variant |
rs1603265481 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
rs1603265487 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
rs1603265500 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
rs1603265504 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
rs1603265760 |
ATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGG |
Pathogenic |
Coding sequence variant, splice acceptor variant, intron variant, splice donor variant |
rs1603265779 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1603265827 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1603265830 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1603265832 |
G>A |
Pathogenic |
Splice donor variant |
rs1603267163 |
CACAGGTTGTTTT>- |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant, intron variant |
rs1603267171 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs1603267181 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1603267194 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1603267195 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1603267332 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1603267344 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs1603267362 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs1603267391 |
TTCAGTAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1603267393 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1603267398 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1603267411 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1603267412 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1603267420 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1603267428 |
->GAGAT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1603267443 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1603267474 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1603267486 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |