| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs2272457 |
C>G,T |
Pathogenic, benign |
Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs3210462 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs143043614 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs146691368 |
C>A,T |
Likely-pathogenic, pathogenic |
Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs186163798 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs201628571 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs370160870 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs397514739 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, splice donor variant |
|
rs397514740 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs398122998 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs398122999 |
A>C |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs398123000 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs541056569 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs565686460 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, synonymous variant |
|
rs748694853 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs749969667 |
AAA>-,AA,AAAA |
Pathogenic, uncertain-significance, not-provided |
Inframe deletion, genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs752940775 |
A>-,AA |
Pathogenic-likely-pathogenic, pathogenic, likely-benign |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs755088564 |
C>T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs755898320 |
C>T |
Conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs761127171 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs767106034 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant |
|
rs767309501 |
A>C,G |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs773860345 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs775406327 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, stop gained |
|
rs797044912 |
C>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained |
|
rs864309534 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs864309535 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs864309536 |
G>A |
Pathogenic |
Synonymous variant, coding sequence variant, splice donor variant |
|
rs864309537 |
T>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs864309538 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs864309539 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs864309540 |
T>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs864309541 |
A>G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs864309542 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs864309543 |
AGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs864309544 |
AGTCAAAAGATAAGAAAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs864309545 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs864309547 |
C>A,G,T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, synonymous variant |
|
rs864309548 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs864309549 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs869312705 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs869312877 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs886039708 |
A>T |
Pathogenic |
Splice acceptor variant |
|
rs886041547 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs886041566 |
AAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs886041628 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs886041650 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886041717 |
A>G |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs886041783 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs886041857 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057518128 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057518236 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057519228 |
G>A |
Likely-pathogenic |
Synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs1057520592 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1057523601 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1060503517 |
TGGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1060503519 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs1064794837 |
A>T |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
|
rs1064796449 |
C>G,T |
Likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1064796496 |
GAGA>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1085307766 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1085308000 |
C>T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs1131692014 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1246923304 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs1317103929 |
G>-,GG |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1555437424 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555437851 |
C>T |
Likely-pathogenic |
Synonymous variant, coding sequence variant |
|
rs1555439036 |
G>C |
Likely-pathogenic |
Splice donor variant |
|
rs1555439545 |
->A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555439557 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555439714 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555439719 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555440555 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1555440558 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1555440885 |
T>G |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1555442813 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1555442886 |
->A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1555442889 |
GCCAAAAAGAAGATGGT>TG |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, inframe indel |
|
rs1555443477 |
AGA>TGATGATGACAAGAAGTGTCATCTGCTTCTGAGAGTGAAACGGATC |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1555444603 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1555444702 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1555444862 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1555445563 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1555445685 |
CT>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1555445693 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1567133726 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1567135138 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1567136357 |
ATAG>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1567138270 |
TG>AAGTCTGAA |
Pathogenic |
Coding sequence variant, inframe indel, stop gained |
|
rs1567138301 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1567149938 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1567152270 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1567159145 |
C>G |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1567163701 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1596406306 |
GGTTGCTTAGGTCATTTTAGAATGTGAGATATTCATTGAATTCTAATCAGATTTATTTTTTATTTGGCATGTTTCTATTACATCAATCACAAAACTTATGTGATATAGAAAGGTAGAAGTAGAAATTATGTCTTAATTATGTTTTTTTCTTATAGATACGGGA>T |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs1596427937 |
CTT>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, inframe deletion |
|
rs1596427956 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1596427970 |
A>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1596429174 |
C>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1596436494 |
G>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1596443241 |
C>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1596447013 |
A>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1596447015 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1596456893 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1596458294 |
CTTCAGTAATGCA>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |