| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs5964007 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs76106850 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs137852815 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs137852816 |
C>A |
Pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs137852817 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852818 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs137852819 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852820 |
G>A,C |
Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs137964936 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs141840001 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs145641295 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Synonymous variant, coding sequence variant |
|
rs200402760 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
|
rs375004542 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs377590077 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs387906499 |
C>T |
Pathogenic |
Synonymous variant, coding sequence variant |
|
rs387906704 |
G>A |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
|
rs387906705 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs398122844 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs398122845 |
T>A,C |
Likely-pathogenic, pathogenic, benign |
Splice acceptor variant |
|
rs544979992 |
T>C |
Benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs587783357 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783360 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783361 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant |
|
rs587783362 |
CTCGAACA>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs587783364 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783366 |
T>A |
Pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs587783368 |
C>T |
Pathogenic |
Splice donor variant |
|
rs587783369 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783370 |
G>A |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, stop gained, coding sequence variant |
|
rs587783371 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs727503840 |
C>T |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs727505397 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs746017736 |
C>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs746809939 |
G>-,GG |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs747587301 |
G>A,C |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant |
|
rs749742837 |
G>A,C |
Not-provided, pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs759736132 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs779508996 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, synonymous variant |
|
rs794727270 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs797045431 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045433 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs863224854 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs886039474 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039651 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039702 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041153 |
C>T |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs886041284 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs886041306 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041645 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886128077 |
G>A,C,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant |
|
rs1021128001 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, genic upstream transcript variant, stop gained |
|
rs1057517923 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057518245 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057521754 |
C>G |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs1057523820 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057524485 |
T>G |
Pathogenic |
Splice acceptor variant |
|
rs1064794937 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1064796344 |
A>G |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1064796488 |
ACT>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs1064796879 |
G>A |
Not-provided, pathogenic |
Coding sequence variant, stop gained |
|
rs1064796884 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167352 |
G>A |
Not-provided, likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs1135401762 |
A>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555971887 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555972599 |
C>A |
Pathogenic |
Splice donor variant |
|
rs1555972628 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555975458 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1555975523 |
C>AT |
Likely-pathogenic |
Splice donor variant |
|
rs1555977195 |
A>G |
Pathogenic |
Splice donor variant |
|
rs1555977199 |
C>G |
Likely-pathogenic |
Splice donor variant |
|
rs1555977248 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555977269 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs1555980033 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555981717 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555981722 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555986221 |
T>C |
Pathogenic |
Intron variant |
|
rs1555989338 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556000257 |
C>T |
Likely-pathogenic |
Intron variant, splice donor variant |
|
rs1556004104 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556014749 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556014805 |
CTGGTGCCATAAA>- |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1556016347 |
C>G |
Likely-pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs1556121448 |
C>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs1556254569 |
G>A |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
|
rs1556313509 |
->C |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs1556313516 |
T>A |
Pathogenic |
Initiator codon variant, genic upstream transcript variant, missense variant |
|
rs1569283243 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1569288603 |
GT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569291261 |
C>T |
Likely-pathogenic |
Splice acceptor variant, intron variant |
|
rs1569295677 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569302194 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs1569306724 |
TTTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569350501 |
C>G |
Pathogenic |
Splice donor variant |
|
rs1569380062 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1569429756 |
T>C |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs1602220170 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1602253464 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602253509 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1602292076 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1602292205 |
GGAGGAGGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602386709 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602424764 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1602424843 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1602424869 |
CAGCATC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602431663 |
GGTGTT>CACCTACGTCATTTATGTAGGA |
Pathogenic |
Coding sequence variant, stop gained, inframe indel, 5 prime UTR variant |
|
rs1602550687 |
T>C |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs1602560972 |
CCAT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |