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rs387906346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTGCCC;GTGCCC) 0 common in clinvar
Make rs387906346(-;-)
Make rs387906346(-;GTGCCC)
ReferenceGRCh38 38.1/141
Chromosome9
Position133449851
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs387906346
ebirs387906346
HLIrs387906346
Exacrs387906346
Varsomers387906346
Maprs387906346
PheGenIrs387906346
hapmaprs387906346
1000 genomesrs387906346
hgdprs387906346
ensemblrs387906346
gopubmedrs387906346
geneviewrs387906346
scholarrs387906346
googlers387906346
pharmgkbrs387906346
gwascentralrs387906346
openSNPrs387906346
23andMers387906346
23andMe allrs387906346
SNP Nexus

SNPshotrs387906346
SNPdbers387906346
MSV3drs387906346
GWAS Ctlgrs387906346
Max Magnitude0
ClinVar
Risk rs387906346(;)
Alt rs387906346(;)
Reference rs387906346(GTGCCC;GTGCCC)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136314972_136314977delGTGCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006177.3,