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rs387906341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs387906341(-;T)
Make rs387906341(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position133456597
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs387906341
dbSNP (classic)rs387906341
ClinGenrs387906341
ebirs387906341
HLIrs387906341
Exacrs387906341
Gnomadrs387906341
Varsomers387906341
LitVarrs387906341
Maprs387906341
PheGenIrs387906341
Biobankrs387906341
1000 genomesrs387906341
hgdprs387906341
ensemblrs387906341
geneviewrs387906341
scholarrs387906341
googlers387906341
pharmgkbrs387906341
gwascentralrs387906341
openSNPrs387906341
23andMers387906341
SNPshotrs387906341
SNPdbers387906341
MSV3drs387906341
GWAS Ctlgrs387906341
Max Magnitude0
ClinVar
Risk rs387906341(T;T)
Alt rs387906341(T;T)
Reference Rs387906341(-;-)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136321719dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006161.4,