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rs121908478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908478(C;T)
Make rs121908478(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133428696
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908478
ebirs121908478
HLIrs121908478
Exacrs121908478
Varsomers121908478
Maprs121908478
PheGenIrs121908478
hapmaprs121908478
1000 genomesrs121908478
hgdprs121908478
ensemblrs121908478
gopubmedrs121908478
geneviewrs121908478
scholarrs121908478
googlers121908478
pharmgkbrs121908478
gwascentralrs121908478
openSNPrs121908478
23andMers121908478
23andMe allrs121908478
SNP Nexus

SNPshotrs121908478
SNPdbers121908478
MSV3drs121908478
GWAS Ctlgrs121908478
Max Magnitude0
OMIM604134
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121908478(T;T)
Alt rs121908478(T;T)
Reference rs121908478(C;C)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136293816C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006174.4,