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rs121908476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908476(C;T)
Make rs121908476(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133436865
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908476
ebirs121908476
HLIrs121908476
Exacrs121908476
Varsomers121908476
Maprs121908476
PheGenIrs121908476
hapmaprs121908476
1000 genomesrs121908476
hgdprs121908476
ensemblrs121908476
gopubmedrs121908476
geneviewrs121908476
scholarrs121908476
googlers121908476
pharmgkbrs121908476
gwascentralrs121908476
openSNPrs121908476
23andMers121908476
23andMe allrs121908476
SNP Nexus

SNPshotrs121908476
SNPdbers121908476
MSV3drs121908476
GWAS Ctlgrs121908476
GMAF0.00551
Max Magnitude0
OMIM604134
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908476(T;T)
Alt rs121908476(T;T)
Reference rs121908476(C;C)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136301985C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006167.3,