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rs121908477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908477(C;C)
Make rs121908477(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133428750
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908477
ebirs121908477
HLIrs121908477
Exacrs121908477
Varsomers121908477
Maprs121908477
PheGenIrs121908477
hapmaprs121908477
1000 genomesrs121908477
hgdprs121908477
ensemblrs121908477
gopubmedrs121908477
geneviewrs121908477
scholarrs121908477
googlers121908477
pharmgkbrs121908477
gwascentralrs121908477
openSNPrs121908477
23andMers121908477
23andMe allrs121908477
SNP Nexus

SNPshotrs121908477
SNPdbers121908477
MSV3drs121908477
GWAS Ctlgrs121908477
Max Magnitude0
OMIM604134
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908477(C;C)
Alt rs121908477(C;C)
Reference rs121908477(G;G)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136293870G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006168.4,