SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs13306758 |
G>A,T |
Likely-pathogenic, benign, likely-benign, risk-factor, pathogenic |
Coding sequence variant, synonymous variant, missense variant |
rs34025424 |
C>A,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs55693364 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs75485205 |
G>A,T |
Likely-benign, benign, pathogenic, benign-likely-benign |
Stop gained, coding sequence variant, synonymous variant |
rs75852730 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, synonymous variant |
rs76672402 |
G>A,C |
Not-provided, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
rs78388808 |
G>A |
Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs80359812 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs80359814 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs80359816 |
C>A,T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs80359818 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs80359819 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
rs80359821 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs80359822 |
TT>AC |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
rs80359823 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs80359825 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs80359828 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs80359829 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs80359832 |
GGA>- |
Pathogenic |
Inframe deletion, coding sequence variant |
rs80359837 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs80359838 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs121909739 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121909740 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
rs139412383 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs139492241 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Intron variant |
rs139722450 |
C>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs140825318 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant |
rs141619735 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs146879902 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs147319894 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, coding sequence variant |
rs150971143 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, coding sequence variant |
rs201989024 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs202060209 |
G>A,T |
Pathogenic, uncertain-significance, likely-pathogenic, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
rs267607059 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs267607060 |
GA>AT |
Pathogenic |
Missense variant, coding sequence variant |
rs267607061 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, synonymous variant |
rs369273744 |
A>G,T |
Benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs373084446 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
rs374080633 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs376653618 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs387907312 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs387907313 |
G>A |
Pathogenic, risk-factor |
Coding sequence variant, missense variant |
rs397514564 |
C>G,T |
Risk-factor |
Coding sequence variant, missense variant |
rs398123069 |
T>C |
Risk-factor |
Coding sequence variant, missense variant |
rs398124230 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
rs531385270 |
G>- |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs587784390 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs587784391 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
rs587784393 |
CGTCAGCTTC>- |
Pathogenic |
Splice acceptor variant, coding sequence variant |
rs587784396 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs587784397 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs749426767 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
rs752143706 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs771386274 |
C>A,T |
Likely-pathogenic |
Intron variant |
rs776095655 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs794727642 |
C>A,G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs794727870 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs794729221 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs796053247 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs796053248 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, synonymous variant |
rs796053249 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs796053251 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs796053253 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs796053254 |
C>T |
Likely-pathogenic |
Coding sequence variant, synonymous variant |
rs796053255 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs796053263 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs796053264 |
A>C,G |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs796053265 |
G>- |
Pathogenic |
Intron variant |
rs796053266 |
AAAGATGGCC>G |
Pathogenic |
Coding sequence variant, inframe deletion |
rs796053267 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs796053268 |
TGCAGCACCACAGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs796053269 |
ACC>- |
Pathogenic |
Splice donor variant, coding sequence variant, intron variant |
rs796053270 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs796053271 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs796053272 |
T>C |
Pathogenic |
Splice acceptor variant |
rs864309514 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs864309522 |
TGA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs869312673 |
C>G,T |
Pathogenic, uncertain-significance |
Splice acceptor variant |
rs878853161 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886039517 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs886039737 |
ATGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041590 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041633 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs886041981 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886044287 |
CG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1057517822 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs1057518821 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1057518953 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs1057520545 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1057521066 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1057521632 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057521967 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1064795152 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1064795363 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1085308009 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1181822928 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs1259158687 |
C>A,T |
Likely-pathogenic, pathogenic |
Intron variant |
rs1264369249 |
->CGGAAGC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1345986424 |
C>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, stop gained |
rs1387203768 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
rs1413339367 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1431778557 |
T>C,G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs1553155843 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1553155885 |
GCT>TCA |
Pathogenic |
Coding sequence variant, stop gained |
rs1553155887 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1553155900 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553155973 |
CAACCCGCCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553155982 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1553155986 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs1553156002 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs1553156047 |
AGACAGCTGCTG>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs1553156051 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1553156053 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1553156069 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553156086 |
C>G |
Pathogenic |
Splice donor variant |
rs1553156146 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553156154 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs1553156161 |
GC>AA |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1553156199 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1557644984 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs1557645002 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1557645723 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1557646075 |
TCTCGGGGC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
rs1557646673 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1557646893 |
->CC |
Pathogenic |
Splice acceptor variant, coding sequence variant |
rs1570590528 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1570590859 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1570590905 |
->TCC |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
rs1570591031 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1570591037 |
AGCTGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570592604 |
CTTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570592655 |
->AT |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570592844 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570592933 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1570593475 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570593487 |
TG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1570593595 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570593621 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570593665 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1570593820 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570593881 |
GTG>TT |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570593893 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1570600997 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1570601007 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1570601051 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1570601060 |
->TGAGGAG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |