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rs121908475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908475(C;T)
Make rs121908475(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133442504
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908475
ebirs121908475
HLIrs121908475
Exacrs121908475
Varsomers121908475
Maprs121908475
PheGenIrs121908475
hapmaprs121908475
1000 genomesrs121908475
hgdprs121908475
ensemblrs121908475
gopubmedrs121908475
geneviewrs121908475
scholarrs121908475
googlers121908475
pharmgkbrs121908475
gwascentralrs121908475
openSNPrs121908475
23andMers121908475
23andMe allrs121908475
SNP Nexus

SNPshotrs121908475
SNPdbers121908475
MSV3drs121908475
GWAS Ctlgrs121908475
Max Magnitude0
OMIM604134
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908475(T;T)
Alt rs121908475(T;T)
Reference rs121908475(C;C)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136307625C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006165.4,