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rs121908471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908471(A;A)
Make rs121908471(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133433478
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908471
dbSNP (classic)rs121908471
ClinGenrs121908471
ebirs121908471
HLIrs121908471
Exacrs121908471
Gnomadrs121908471
Varsomers121908471
LitVarrs121908471
Maprs121908471
PheGenIrs121908471
Biobankrs121908471
1000 genomesrs121908471
hgdprs121908471
ensemblrs121908471
geneviewrs121908471
scholarrs121908471
googlers121908471
pharmgkbrs121908471
gwascentralrs121908471
openSNPrs121908471
23andMers121908471
SNPshotrs121908471
SNPdbers121908471
MSV3drs121908471
GWAS Ctlgrs121908471
Max Magnitude0
OMIM604134
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908471(A;A)
Alt rs121908471(A;A)
Reference Rs121908471(G;G)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136298598G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006158.4,