SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs113994198 |
A>-,AA |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
rs113994200 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs113994202 |
T>C |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, intron variant |
rs113994203 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs121434482 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs121434483 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs121434484 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs121434485 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs121434486 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, intron variant, genic downstream transcript variant |
rs121434487 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs121434488 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs121434489 |
C>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, genic downstream transcript variant |
rs121434490 |
A>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs140936904 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, genic downstream transcript variant |
rs200390886 |
G>A,C |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs369259961 |
T>C,G |
Pathogenic |
Intron variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant |
rs587784235 |
G>A |
Pathogenic |
Intron variant, genic downstream transcript variant |
rs587784236 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784237 |
CGTGGAGT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784238 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784239 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784240 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784241 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784242 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784243 |
T>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs587784244 |
G>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784245 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784247 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784248 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784249 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784250 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, genic downstream transcript variant |
rs587784251 |
A>C |
Pathogenic |
Stop lost, genic downstream transcript variant, terminator codon variant |
rs587784252 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant, genic downstream transcript variant |
rs587784253 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant, genic downstream transcript variant |
rs587784254 |
T>A |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, genic downstream transcript variant |
rs587784256 |
G>A,T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs587784257 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, genic downstream transcript variant |
rs587784258 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784259 |
->A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784260 |
C>G,T |
Pathogenic, uncertain-significance |
Intron variant, genic downstream transcript variant |
rs587784261 |
T>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784262 |
C>A,G,T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, synonymous variant, missense variant, genic downstream transcript variant |
rs587784263 |
A>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784264 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs587784265 |
G>A |
Pathogenic |
Missense variant, 5 prime UTR variant, initiator codon variant, genic downstream transcript variant |
rs587784266 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784267 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784268 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784269 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784270 |
AACTA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784271 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784272 |
T>G |
Pathogenic |
Coding sequence variant, missense variant, intron variant, genic downstream transcript variant |
rs587784273 |
C>G |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784274 |
CTATAAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784275 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784276 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
rs587784277 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784278 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784279 |
A>G |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
rs587784280 |
G>A |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
rs587784281 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784282 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant |
rs587784284 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784285 |
T>G |
Pathogenic |
Coding sequence variant, stop gained, intron variant, genic downstream transcript variant |
rs587784286 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784287 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784288 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784289 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs587784290 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs587784291 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant |
rs587784292 |
AAAA>-,AAA |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs587784293 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs587784294 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs794729199 |
G>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs797045061 |
A>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
rs797045855 |
->T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045857 |
->AAGGTAAC |
Pathogenic |
5 prime UTR variant, genic downstream transcript variant, splice donor variant, coding sequence variant, intron variant |
rs797045858 |
->CC |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045859 |
->T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045861 |
->A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045863 |
T>- |
Likely-pathogenic |
Genic downstream transcript variant, intron variant |
rs797045864 |
->A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045865 |
GA>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045866 |
->AT |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant |
rs797045867 |
->ATCAA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045868 |
CTG>TGACCCA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045869 |
TG>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045870 |
->C |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045871 |
G>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs797045872 |
->G |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs886039665 |
G>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
rs886041341 |
C>G,T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, stop gained |
rs886041664 |
G>- |
Pathogenic |
Genic downstream transcript variant, intron variant |
rs1057520515 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
rs1057521243 |
G>C |
Likely-pathogenic |
Splice acceptor variant, intron variant, genic downstream transcript variant |
rs1064793990 |
TATTA>ATCTTAAT |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
rs1064796229 |
GGT>- |
Likely-pathogenic |
Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant |
rs1555526248 |
G>C |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
rs1555526309 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, 5 prime UTR variant, coding sequence variant |
rs1555526718 |
->A |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
rs1555526733 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs1555527149 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555527743 |
ACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTT>- |
Pathogenic |
Intron variant, splice acceptor variant, genic downstream transcript variant, coding sequence variant |
rs1567554574 |
C>G |
Pathogenic |
Intron variant, stop gained, genic downstream transcript variant, coding sequence variant |
rs1567559851 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
rs1567561137 |
CTTATGACCCTCGTAAGTTTGC>- |
Pathogenic |
Splice donor variant, intron variant, genic downstream transcript variant, coding sequence variant |
rs1597577296 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |