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rs142572218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142572218(C;T)
Make rs142572218(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position133454548
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs142572218
dbSNP (classic)rs142572218
ClinGenrs142572218
ebirs142572218
HLIrs142572218
Exacrs142572218
Gnomadrs142572218
Varsomers142572218
LitVarrs142572218
Maprs142572218
PheGenIrs142572218
Biobankrs142572218
1000 genomesrs142572218
hgdprs142572218
ensemblrs142572218
geneviewrs142572218
scholarrs142572218
googlers142572218
pharmgkbrs142572218
gwascentralrs142572218
openSNPrs142572218
23andMers142572218
SNPshotrs142572218
SNPdbers142572218
MSV3drs142572218
GWAS Ctlgrs142572218
Max Magnitude0

[PMID 25934476] Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity

ClinVar
Risk rs142572218(A;A) rs142572218(T;T)
Alt rs142572218(A;A) rs142572218(T;T)
Reference Rs142572218(C;C)
Significance Untested
Disease not provided
Variation info
Gene ADAMTS13
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.136319670C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059767.1,