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rs387906344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs387906344(-;-)
Make rs387906344(-;TT)
ReferenceGRCh38 38.1/141
Chromosome9
Position133439443
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs387906344
ebirs387906344
HLIrs387906344
Exacrs387906344
Varsomers387906344
Maprs387906344
PheGenIrs387906344
hapmaprs387906344
1000 genomesrs387906344
hgdprs387906344
ensemblrs387906344
gopubmedrs387906344
geneviewrs387906344
scholarrs387906344
googlers387906344
pharmgkbrs387906344
gwascentralrs387906344
openSNPrs387906344
23andMers387906344
23andMe allrs387906344
SNP Nexus

SNPshotrs387906344
SNPdbers387906344
MSV3drs387906344
GWAS Ctlgrs387906344
Max Magnitude0
ClinVar
Risk rs387906344(;)
Alt rs387906344(;)
Reference rs387906344(TT;TT)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136304564_136304565delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006171.4,