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rs74315388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315388(G;T)
Make rs74315388(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434102
GeneGDF5, GDF5OS
is asnp
is mentioned by
dbSNPrs74315388
ebirs74315388
HLIrs74315388
Exacrs74315388
Varsomers74315388
Maprs74315388
PheGenIrs74315388
hapmaprs74315388
1000 genomesrs74315388
hgdprs74315388
ensemblrs74315388
gopubmedrs74315388
geneviewrs74315388
scholarrs74315388
googlers74315388
pharmgkbrs74315388
gwascentralrs74315388
openSNPrs74315388
23andMers74315388
23andMe allrs74315388
SNP Nexus

SNPshotrs74315388
SNPdbers74315388
MSV3drs74315388
GWAS Ctlgrs74315388
Max Magnitude0
OMIM601146
Desc
Variant0011
Relatedalso
ClinVar
Risk rs74315388(T;T)
Alt rs74315388(T;T)
Reference rs74315388(G;G)
Significance Pathogenic
Disease Symphalangism Multiple synostoses syndrome 2
Variation info
Gene GDF5
CLNDBN Symphalangism, proximal, 1b Multiple synostoses syndrome 2
Reversed 1
HGVS NC_000020.10:g.34021900C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008893.3, RCV000008894.3,