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rs121909347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909347(A;A)
Make rs121909347(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position35433991
GeneGDF5, GDF5OS
is asnp
is mentioned by
dbSNPrs121909347
ebirs121909347
HLIrs121909347
Exacrs121909347
Varsomers121909347
Maprs121909347
PheGenIrs121909347
hapmaprs121909347
1000 genomesrs121909347
hgdprs121909347
ensemblrs121909347
gopubmedrs121909347
geneviewrs121909347
scholarrs121909347
googlers121909347
pharmgkbrs121909347
gwascentralrs121909347
openSNPrs121909347
23andMers121909347
23andMe allrs121909347
SNP Nexus

SNPshotrs121909347
SNPdbers121909347
MSV3drs121909347
GWAS Ctlgrs121909347
Max Magnitude0
OMIM601146
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909347(A;A)
Alt rs121909347(A;A)
Reference rs121909347(G;G)
Significance Pathogenic
Disease Multiple synostoses syndrome 2
Variation info
Gene GDF5
CLNDBN Multiple synostoses syndrome 2
Reversed 1
HGVS NC_000020.10:g.34021789C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008896.2,