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rs121434359

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434359(C;T)
Make rs121434359(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position8597075
GeneADAMTS10
is asnp
is mentioned by
dbSNPrs121434359
dbSNP (classic)rs121434359
ClinGenrs121434359
ebirs121434359
HLIrs121434359
Exacrs121434359
Gnomadrs121434359
Varsomers121434359
LitVarrs121434359
Maprs121434359
PheGenIrs121434359
Biobankrs121434359
1000 genomesrs121434359
hgdprs121434359
ensemblrs121434359
geneviewrs121434359
scholarrs121434359
googlers121434359
pharmgkbrs121434359
gwascentralrs121434359
openSNPrs121434359
23andMers121434359
SNPshotrs121434359
SNPdbers121434359
MSV3drs121434359
GWAS Ctlgrs121434359
Max Magnitude0
OMIM608990
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434359(T;T)
Alt rs121434359(T;T)
Reference Rs121434359(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.8661959G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002025.3,