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rs387906343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906343(-;-)
Make rs387906343(-;A)
Make rs387906343(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position133459039
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs387906343
ebirs387906343
HLIrs387906343
Exacrs387906343
Varsomers387906343
Maprs387906343
PheGenIrs387906343
hapmaprs387906343
1000 genomesrs387906343
hgdprs387906343
ensemblrs387906343
gopubmedrs387906343
geneviewrs387906343
scholarrs387906343
googlers387906343
pharmgkbrs387906343
gwascentralrs387906343
openSNPrs387906343
23andMers387906343
23andMe allrs387906343
SNP Nexus

SNPshotrs387906343
SNPdbers387906343
MSV3drs387906343
GWAS Ctlgrs387906343
Max Magnitude0
ClinVar
Risk rs387906343(A;A)
Alt rs387906343(A;A)
Reference rs387906343(;)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene CACFD1 ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136324161dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006163.4,