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rs121909351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909351(A;A)
Make rs121909351(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434109
GeneGDF5
is asnp
is mentioned by
dbSNPrs121909351
dbSNP (classic)rs121909351
ClinGenrs121909351
ebirs121909351
HLIrs121909351
Exacrs121909351
Gnomadrs121909351
Varsomers121909351
LitVarrs121909351
Maprs121909351
PheGenIrs121909351
Biobankrs121909351
1000 genomesrs121909351
hgdprs121909351
ensemblrs121909351
geneviewrs121909351
scholarrs121909351
googlers121909351
pharmgkbrs121909351
gwascentralrs121909351
openSNPrs121909351
23andMers121909351
SNPshotrs121909351
SNPdbers121909351
MSV3drs121909351
GWAS Ctlgrs121909351
Max Magnitude0
OMIM601146
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121909351(A;A)
Alt rs121909351(A;A)
Reference Rs121909351(C;C)
Significance Pathogenic
Disease Fibular hypoplasia and complex brachydactyly
Variation info
Gene GDF5
CLNDBN Fibular hypoplasia and complex brachydactyly
Reversed 1
HGVS NC_000020.10:g.34021907G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008902.3,