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rs121909348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909348(G;G)
Make rs121909348(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position35433954
GeneGDF5, GDF5OS
is asnp
is mentioned by
dbSNPrs121909348
ebirs121909348
HLIrs121909348
Exacrs121909348
Varsomers121909348
Maprs121909348
PheGenIrs121909348
hapmaprs121909348
1000 genomesrs121909348
hgdprs121909348
ensemblrs121909348
gopubmedrs121909348
geneviewrs121909348
scholarrs121909348
googlers121909348
pharmgkbrs121909348
gwascentralrs121909348
openSNPrs121909348
23andMers121909348
23andMe allrs121909348
SNP Nexus

SNPshotrs121909348
SNPdbers121909348
MSV3drs121909348
GWAS Ctlgrs121909348
Max Magnitude0
OMIM601146
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121909348(G;G)
Alt rs121909348(G;G)
Reference rs121909348(T;T)
Significance Pathogenic
Disease Brachydactyly type C
Variation info
Gene GDF5
CLNDBN Brachydactyly type C
Reversed 1
HGVS NC_000020.10:g.34021752A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008899.2,