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rs786205077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205077(A;A)
Make rs786205077(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133425613
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs786205077
dbSNP (classic)rs786205077
ClinGenrs786205077
ebirs786205077
HLIrs786205077
Exacrs786205077
Gnomadrs786205077
Varsomers786205077
LitVarrs786205077
Maprs786205077
PheGenIrs786205077
Biobankrs786205077
1000 genomesrs786205077
hgdprs786205077
ensemblrs786205077
geneviewrs786205077
scholarrs786205077
googlers786205077
pharmgkbrs786205077
gwascentralrs786205077
openSNPrs786205077
23andMers786205077
SNPshotrs786205077
SNPdbers786205077
MSV3drs786205077
GWAS Ctlgrs786205077
Max Magnitude0
ClinVar
Risk rs786205077(A;A)
Alt rs786205077(A;A)
Reference Rs786205077(G;G)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136290733G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006173.5,