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rs397514519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514519(C;T)
Make rs397514519(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434220
GeneGDF5
is asnp
is mentioned by
dbSNPrs397514519
ebirs397514519
HLIrs397514519
Exacrs397514519
Varsomers397514519
Maprs397514519
PheGenIrs397514519
hapmaprs397514519
1000 genomesrs397514519
hgdprs397514519
ensemblrs397514519
gopubmedrs397514519
geneviewrs397514519
scholarrs397514519
googlers397514519
pharmgkbrs397514519
gwascentralrs397514519
openSNPrs397514519
23andMers397514519
23andMe allrs397514519
SNP Nexus

SNPshotrs397514519
SNPdbers397514519
MSV3drs397514519
GWAS Ctlgrs397514519
Max Magnitude0
ClinVar
Risk rs397514519(T;T)
Alt rs397514519(T;T)
Reference rs397514519(C;C)
Significance Pathogenic
Disease Brachydactyly
Variation info
Gene GDF5
CLNDBN Brachydactyly, type a1, c
Reversed 1
HGVS NC_000020.10:g.34022018G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032711.2,