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rs121909350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909350(A;A)
Make rs121909350(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434282
GeneGDF5, GDF5OS
is asnp
is mentioned by
dbSNPrs121909350
ebirs121909350
HLIrs121909350
Exacrs121909350
Varsomers121909350
Maprs121909350
PheGenIrs121909350
hapmaprs121909350
1000 genomesrs121909350
hgdprs121909350
ensemblrs121909350
gopubmedrs121909350
geneviewrs121909350
scholarrs121909350
googlers121909350
pharmgkbrs121909350
gwascentralrs121909350
openSNPrs121909350
23andMers121909350
23andMe allrs121909350
SNP Nexus

SNPshotrs121909350
SNPdbers121909350
MSV3drs121909350
GWAS Ctlgrs121909350
Max Magnitude0
OMIM601146
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121909350(A;A)
Alt rs121909350(A;A)
Reference rs121909350(G;G)
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.34022080C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008901.3,