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rs121908468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs121908468(G;G)
Make rs121908468(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133448718
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908468
dbSNP (classic)rs121908468
ClinGenrs121908468
ebirs121908468
HLIrs121908468
Exacrs121908468
Gnomadrs121908468
Varsomers121908468
LitVarrs121908468
Maprs121908468
PheGenIrs121908468
Biobankrs121908468
1000 genomesrs121908468
hgdprs121908468
ensemblrs121908468
geneviewrs121908468
scholarrs121908468
googlers121908468
pharmgkbrs121908468
gwascentralrs121908468
openSNPrs121908468
23andMers121908468
SNPshotrs121908468
SNPdbers121908468
MSV3drs121908468
GWAS Ctlgrs121908468
Max Magnitude0
OMIM604134
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908468(G;G)
Alt rs121908468(G;G)
Reference Rs121908468(T;T)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136313839T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006155.4,