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rs74315386

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315386(C;T)
Make rs74315386(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434514
GeneGDF5, GDF5OS
is asnp
is mentioned by
dbSNPrs74315386
ebirs74315386
HLIrs74315386
Exacrs74315386
Varsomers74315386
Maprs74315386
PheGenIrs74315386
hapmaprs74315386
1000 genomesrs74315386
hgdprs74315386
ensemblrs74315386
gopubmedrs74315386
geneviewrs74315386
scholarrs74315386
googlers74315386
pharmgkbrs74315386
gwascentralrs74315386
openSNPrs74315386
23andMers74315386
23andMe allrs74315386
SNP Nexus

SNPshotrs74315386
SNPdbers74315386
MSV3drs74315386
GWAS Ctlgrs74315386
Max Magnitude0
OMIM601146
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315386(T;T)
Alt rs74315386(T;T)
Reference rs74315386(C;C)
Significance Pathogenic
Disease Brachydactyly type C
Variation info
Gene GDF5
CLNDBN Brachydactyly type C
Reversed 1
HGVS NC_000020.10:g.34022312G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008884.3,