| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121908509 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908510 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908511 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908512 |
A>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908513 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908514 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908515 |
C>A,T |
Benign, benign-likely-benign, likely-benign, risk-factor |
Stop gained, coding sequence variant, missense variant |
|
rs121908516 |
A>C,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908517 |
C>A |
Conflicting-interpretations-of-pathogenicity, pathogenic, risk-factor |
Coding sequence variant, missense variant |
|
rs121908518 |
C>G,T |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant |
|
rs121908519 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs142053576 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, intron variant, missense variant |
|
rs143003434 |
G>A |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs144594804 |
A>C |
Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs145206063 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, 3 prime UTR variant, synonymous variant |
|
rs554544808 |
TAAT>- |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
|
rs570685843 |
AAGT>- |
Likely-pathogenic |
Intron variant, splice donor variant |
|
rs573642949 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs587777751 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587777752 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs587777753 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587777754 |
G>A,C,T |
Pathogenic |
Splice donor variant |
|
rs587777755 |
A>G |
Pathogenic |
Intron variant |
|
rs587777756 |
->T |
Pathogenic |
Splice donor variant |
|
rs587777757 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs757130394 |
C>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs768241184 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs786204057 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs786204126 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs786204132 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs786204163 |
G>A,C |
Pathogenic |
Splice acceptor variant |
|
rs797044850 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs863224513 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863224514 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs863224515 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs863224923 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs864622162 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs864622179 |
G>A |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs864622268 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869312949 |
C>G |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs875989878 |
G>A |
Pathogenic |
Splice donor variant |
|
rs878854990 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs878854991 |
G>A,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, missense variant |
|
rs878854992 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs886039695 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041597 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1057517974 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518873 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs1057518880 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057519181 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057520127 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057521135 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs1057524526 |
G>C |
Pathogenic |
Splice acceptor variant |
|
rs1060499670 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1060499939 |
G>C,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs1060502226 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1060502227 |
C>G,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs1060502229 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1060502230 |
CC>GGT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064793273 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064793976 |
G>A,C |
Pathogenic |
Splice acceptor variant |
|
rs1064796279 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1131691684 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1131691838 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1131691971 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1131691972 |
T>A,C |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1131691977 |
T>A,C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs1218081251 |
A>C,G |
Pathogenic |
Splice acceptor variant |
|
rs1233469782 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs1315245986 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1384312757 |
->GG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1410418105 |
GGCGGCGAGGCCG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1421791559 |
G>A,C,T |
Likely-pathogenic |
Synonymous variant, missense variant, coding sequence variant |
|
rs1485703744 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1553314896 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553314902 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553314948 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553314951 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553314978 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs1553315169 |
A>G,T |
Pathogenic |
Splice acceptor variant |
|
rs1553315181 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553315188 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553315223 |
ACAGCAACCTTGC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553315318 |
G>A,C,T |
Pathogenic |
Splice acceptor variant |
|
rs1553315321 |
AAATT>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553315323 |
->GATAT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553315329 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs1553315336 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553316799 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553316806 |
T>G |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553316816 |
T>A,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553316838 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553316843 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553317018 |
A>C,T |
Pathogenic |
Splice acceptor variant |
|
rs1553317024 |
G>A,C,T |
Pathogenic |
Splice acceptor variant |
|
rs1553317025 |
C>G,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553317028 |
CTT>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1553317029 |
CTTT>- |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553317032 |
TATAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553317045 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553318164 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs1553318177 |
->TG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553318184 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553318205 |
ATTAAAGTCTTATACTTGTATTTCCTCTA>- |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1553318230 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553318238 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553318274 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553318276 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs1553318282 |
G>A,C |
Pathogenic, likely-pathogenic |
Intron variant |
|
rs1553318313 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553318320 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553318338 |
->TGA |
Likely-pathogenic |
Coding sequence variant, inframe insertion |
|
rs1553318347 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553319075 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1553319095 |
G>C,T |
Likely-pathogenic |
Splice donor variant |
|
rs1553319290 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553319296 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553319298 |
GAAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553319318 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553319327 |
G>C |
Likely-pathogenic |
Splice donor variant |
|
rs1553319524 |
A>G |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1553319526 |
G>A,T |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1553321194 |
A>G,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553321196 |
T>G |
Likely-pathogenic |
3 prime UTR variant, coding sequence variant, missense variant |
|
rs1553321232 |
TAAA>- |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1553321237 |
T>A |
Likely-pathogenic |
3 prime UTR variant, coding sequence variant, missense variant |
|
rs1553321261 |
->A |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1553321269 |
A>C,G |
Likely-pathogenic |
3 prime UTR variant, coding sequence variant, missense variant |
|
rs1553394366 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553394497 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553394509 |
CCGCTGTTTG>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553394603 |
G>A,T |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs1553394622 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553399472 |
AGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553399493 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553400002 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1558323426 |
AC>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1558323598 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1558323659 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1558331940 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1558336544 |
AAG>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs1558336906 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1558336927 |
->AATAGAATTTGATGGTG |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
|
rs1558337136 |
->TA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1558337180 |
TAGG>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant |
|
rs1558339948 |
AGG>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
|
rs1558340832 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1558341948 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs1558606204 |
->GCGTCCGAGT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1573028017 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573068995 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1573072864 |
TG>- |
Pathogenic |
Coding sequence variant, inframe indel, stop gained |
|
rs1573118105 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573120705 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1573121594 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1573121790 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573142475 |
G>- |
Pathogenic |
Coding sequence variant, splice acceptor variant |
|
rs1573142681 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573156283 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573156341 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573156433 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1573157000 |
CAACTAATAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573157108 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573167562 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1573174147 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1573186691 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, 3 prime UTR variant |