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rs121908467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908467(C;G)
Make rs121908467(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133424434
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908467
dbSNP (classic)rs121908467
ClinGenrs121908467
ebirs121908467
HLIrs121908467
Exacrs121908467
Gnomadrs121908467
Varsomers121908467
LitVarrs121908467
Maprs121908467
PheGenIrs121908467
Biobankrs121908467
1000 genomesrs121908467
hgdprs121908467
ensemblrs121908467
geneviewrs121908467
scholarrs121908467
googlers121908467
pharmgkbrs121908467
gwascentralrs121908467
openSNPrs121908467
23andMers121908467
SNPshotrs121908467
SNPdbers121908467
MSV3drs121908467
GWAS Ctlgrs121908467
Max Magnitude0
OMIM604134
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908467(G;G)
Alt rs121908467(G;G)
Reference Rs121908467(C;C)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136289554C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006154.4,