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rs121434357

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434357(C;T)
Make rs121434357(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position8601029
GeneADAMTS10
is asnp
is mentioned by
dbSNPrs121434357
dbSNP (classic)rs121434357
ClinGenrs121434357
ebirs121434357
HLIrs121434357
Exacrs121434357
Gnomadrs121434357
Varsomers121434357
LitVarrs121434357
Maprs121434357
PheGenIrs121434357
Biobankrs121434357
1000 genomesrs121434357
hgdprs121434357
ensemblrs121434357
geneviewrs121434357
scholarrs121434357
googlers121434357
pharmgkbrs121434357
gwascentralrs121434357
openSNPrs121434357
23andMers121434357
SNPshotrs121434357
SNPdbers121434357
MSV3drs121434357
GWAS Ctlgrs121434357
Max Magnitude0
OMIM608990
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434357(T;T)
Alt rs121434357(T;T)
Reference Rs121434357(C;C)
Significance Pathogenic
Disease Weill-Marchesani syndrome 1
Variation info
Gene ADAMTS10
CLNDBN Weill-Marchesani syndrome 1
Reversed 1
HGVS NC_000019.9:g.8665913G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002021.3,