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rs1060499780

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499780(-;-)
Make rs1060499780(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position133455576
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs1060499780
dbSNP (old)rs1060499780
ClinGenrs1060499780
ebirs1060499780
HLIrs1060499780
Exacrs1060499780
Gnomadrs1060499780
Varsomers1060499780
Maprs1060499780
PheGenIrs1060499780
Biobankrs1060499780
1000 genomesrs1060499780
hgdprs1060499780
ensemblrs1060499780
gopubmedrs1060499780
geneviewrs1060499780
scholarrs1060499780
googlers1060499780
pharmgkbrs1060499780
gwascentralrs1060499780
openSNPrs1060499780
23andMers1060499780
23andMe allrs1060499780
SNPshotrs1060499780
SNPdbers1060499780
MSV3drs1060499780
GWAS Ctlgrs1060499780
Max Magnitude0
ClinVar
Risk rs1060499780(-;-)
Alt rs1060499780(-;-)
Reference Rs1060499780(G;G)
Significance Probable-Pathogenic
Disease Upshaw-Schulman syndrome
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome
Reversed 0
HGVS NC_000009.11:g.136320698delG
CLNSRC
CLNACC RCV000454327.1,