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rs28936683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28936683(C;C)
Make rs28936683(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position35434093
GeneGDF5, GDF5OS
is asnp
is mentioned by
dbSNPrs28936683
ebirs28936683
HLIrs28936683
Exacrs28936683
Varsomers28936683
Maprs28936683
PheGenIrs28936683
hapmaprs28936683
1000 genomesrs28936683
hgdprs28936683
ensemblrs28936683
gopubmedrs28936683
geneviewrs28936683
scholarrs28936683
googlers28936683
pharmgkbrs28936683
gwascentralrs28936683
openSNPrs28936683
23andMers28936683
23andMe allrs28936683
SNP Nexus

SNPshotrs28936683
SNPdbers28936683
MSV3drs28936683
GWAS Ctlgrs28936683
Max Magnitude0
OMIM601146
DescFIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
Variant0005
Relatedalso


ClinVar
Risk rs28936683(C;C)
Alt rs28936683(C;C)
Reference rs28936683(T;T)
Significance Pathogenic
Disease Fibular hypoplasia and complex brachydactyly Brachydactyly type A2
Variation info
Gene GDF5
CLNDBN Fibular hypoplasia and complex brachydactyly Brachydactyly type A2
Reversed 1
HGVS NC_000020.10:g.34021891A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008887.2, RCV000008888.2,