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rs121908473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs121908473(A;G)
Make rs121908473(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133437895
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908473
dbSNP (classic)rs121908473
ClinGenrs121908473
ebirs121908473
HLIrs121908473
Exacrs121908473
Gnomadrs121908473
Varsomers121908473
LitVarrs121908473
Maprs121908473
PheGenIrs121908473
Biobankrs121908473
1000 genomesrs121908473
hgdprs121908473
ensemblrs121908473
geneviewrs121908473
scholarrs121908473
googlers121908473
pharmgkbrs121908473
gwascentralrs121908473
openSNPrs121908473
23andMers121908473
SNPshotrs121908473
SNPdbers121908473
MSV3drs121908473
GWAS Ctlgrs121908473
Max Magnitude0
OMIM604134
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908473(G;G)
Alt rs121908473(G;G)
Reference Rs121908473(A;A)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136303015A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006160.4,