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rs281875305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875305(A;A)
Make rs281875305(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133437836
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs281875305
ebirs281875305
HLIrs281875305
Exacrs281875305
Varsomers281875305
Maprs281875305
PheGenIrs281875305
hapmaprs281875305
1000 genomesrs281875305
hgdprs281875305
ensemblrs281875305
gopubmedrs281875305
geneviewrs281875305
scholarrs281875305
googlers281875305
pharmgkbrs281875305
gwascentralrs281875305
openSNPrs281875305
23andMers281875305
23andMe allrs281875305
SNP Nexus

SNPshotrs281875305
SNPdbers281875305
MSV3drs281875305
GWAS Ctlgrs281875305
Max Magnitude0
ClinVar
Risk rs281875305(A;A)
Alt rs281875305(A;A)
Reference rs281875305(G;G)
Significance Pathogenic
Disease Upshaw-Schulman syndrome not provided
Variation info
Gene ADAMTS13
CLNDBN Upshaw-Schulman syndrome not provided
Reversed 0
HGVS NC_000009.11:g.136302956G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000006169.4, RCV000059755.1,


[PMID 12181489OA-icon.png] Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.