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rs121908474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908474(A;A)
Make rs121908474(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133456138
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908474
dbSNP (classic)rs121908474
ClinGenrs121908474
ebirs121908474
HLIrs121908474
Exacrs121908474
Gnomadrs121908474
Varsomers121908474
LitVarrs121908474
Maprs121908474
PheGenIrs121908474
Biobankrs121908474
1000 genomesrs121908474
hgdprs121908474
ensemblrs121908474
geneviewrs121908474
scholarrs121908474
googlers121908474
pharmgkbrs121908474
gwascentralrs121908474
openSNPrs121908474
23andMers121908474
SNPshotrs121908474
SNPdbers121908474
MSV3drs121908474
GWAS Ctlgrs121908474
Max Magnitude0
OMIM604134
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908474(A;A)
Alt rs121908474(A;A)
Reference Rs121908474(G;G)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136321260G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006164.4,