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rs121909349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909349(G;G)
Make rs121909349(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434297
GeneGDF5
is asnp
is mentioned by
dbSNPrs121909349
dbSNP (classic)rs121909349
ClinGenrs121909349
ebirs121909349
HLIrs121909349
Exacrs121909349
Gnomadrs121909349
Varsomers121909349
LitVarrs121909349
Maprs121909349
PheGenIrs121909349
Biobankrs121909349
1000 genomesrs121909349
hgdprs121909349
ensemblrs121909349
geneviewrs121909349
scholarrs121909349
googlers121909349
pharmgkbrs121909349
gwascentralrs121909349
openSNPrs121909349
23andMers121909349
SNPshotrs121909349
SNPdbers121909349
MSV3drs121909349
GWAS Ctlgrs121909349
Max Magnitude0
OMIM601146
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121909349(G;G)
Alt rs121909349(G;G)
Reference Rs121909349(T;T)
Significance Pathogenic
Disease Symphalangism
Variation info
Gene GDF5
CLNDBN Symphalangism, proximal, 1b
Reversed 1
HGVS NC_000020.10:g.34022095A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008900.3,