Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205078(A;A)
Make rs786205078(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133425528
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs786205078
dbSNP (classic)rs786205078
ClinGenrs786205078
ebirs786205078
HLIrs786205078
Exacrs786205078
Gnomadrs786205078
Varsomers786205078
LitVarrs786205078
Maprs786205078
PheGenIrs786205078
Biobankrs786205078
1000 genomesrs786205078
hgdprs786205078
ensemblrs786205078
geneviewrs786205078
scholarrs786205078
googlers786205078
pharmgkbrs786205078
gwascentralrs786205078
openSNPrs786205078
23andMers786205078
SNPshotrs786205078
SNPdbers786205078
MSV3drs786205078
GWAS Ctlgrs786205078
Max Magnitude0
ClinVar
Risk rs786205078(A;A)
Alt rs786205078(A;A)
Reference Rs786205078(G;G)
Significance Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136290648G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006175.3,