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rs397514668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514668(A;A)
Make rs397514668(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434276
GeneGDF5
is asnp
is mentioned by
dbSNPrs397514668
dbSNP (classic)rs397514668
ClinGenrs397514668
ebirs397514668
HLIrs397514668
Exacrs397514668
Gnomadrs397514668
Varsomers397514668
LitVarrs397514668
Maprs397514668
PheGenIrs397514668
Biobankrs397514668
1000 genomesrs397514668
hgdprs397514668
ensemblrs397514668
geneviewrs397514668
scholarrs397514668
googlers397514668
pharmgkbrs397514668
gwascentralrs397514668
openSNPrs397514668
23andMers397514668
SNPshotrs397514668
SNPdbers397514668
MSV3drs397514668
GWAS Ctlgrs397514668
Max Magnitude0
ClinVar
Risk rs397514668(A;A)
Alt rs397514668(A;A)
Reference Rs397514668(G;G)
Significance Pathogenic
Disease Brachydactyly type A2
Variation info
Gene GDF5
CLNDBN Brachydactyly type A2
Reversed 1
HGVS NC_000020.10:g.34022074C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033861.4,