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rs74315389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315389(A;A)
Make rs74315389(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position35433944
GeneGDF5
is asnp
is mentioned by
dbSNPrs74315389
dbSNP (classic)rs74315389
ClinGenrs74315389
ebirs74315389
HLIrs74315389
Exacrs74315389
Gnomadrs74315389
Varsomers74315389
LitVarrs74315389
Maprs74315389
PheGenIrs74315389
Biobankrs74315389
1000 genomesrs74315389
hgdprs74315389
ensemblrs74315389
geneviewrs74315389
scholarrs74315389
googlers74315389
pharmgkbrs74315389
gwascentralrs74315389
openSNPrs74315389
23andMers74315389
SNPshotrs74315389
SNPdbers74315389
MSV3drs74315389
GWAS Ctlgrs74315389
Max Magnitude0
OMIM601146
Desc
Variant0014
Relatedalso
ClinVar
Risk rs74315389(A;A)
Alt rs74315389(A;A)
Reference Rs74315389(G;G)
Significance Pathogenic
Disease Symphalangism
Variation info
Gene GDF5
CLNDBN Symphalangism, proximal, 1b
Reversed 1
HGVS NC_000020.10:g.34021742C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008897.4,