Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs121908472(G;G)
Make rs121908472(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133454440
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908472
dbSNP (classic)rs121908472
ClinGenrs121908472
ebirs121908472
HLIrs121908472
Exacrs121908472
Gnomadrs121908472
Varsomers121908472
LitVarrs121908472
Maprs121908472
PheGenIrs121908472
Biobankrs121908472
1000 genomesrs121908472
hgdprs121908472
ensemblrs121908472
geneviewrs121908472
scholarrs121908472
googlers121908472
pharmgkbrs121908472
gwascentralrs121908472
openSNPrs121908472
23andMers121908472
SNPshotrs121908472
SNPdbers121908472
MSV3drs121908472
GWAS Ctlgrs121908472
GMAF0.0004591
Max Magnitude0
OMIM604134
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908472(G;G)
Alt rs121908472(G;G)
Reference Rs121908472(T;T)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136319562T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006159.4,