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rs121908469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908469(C;T)
Make rs121908469(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133424452
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs121908469
ebirs121908469
HLIrs121908469
Exacrs121908469
Varsomers121908469
Maprs121908469
PheGenIrs121908469
hapmaprs121908469
1000 genomesrs121908469
hgdprs121908469
ensemblrs121908469
gopubmedrs121908469
geneviewrs121908469
scholarrs121908469
googlers121908469
pharmgkbrs121908469
gwascentralrs121908469
openSNPrs121908469
23andMers121908469
23andMe allrs121908469
SNP Nexus

SNPshotrs121908469
SNPdbers121908469
MSV3drs121908469
GWAS Ctlgrs121908469
Max Magnitude0
OMIM604134
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908469(T;T)
Alt rs121908469(T;T)
Reference rs121908469(C;C)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136289572C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006156.4,