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rs28936397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28936397(A;G)
Make rs28936397(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position35437412
GeneGDF5
is asnp
is mentioned by
dbSNPrs28936397
ebirs28936397
HLIrs28936397
Exacrs28936397
Varsomers28936397
Maprs28936397
PheGenIrs28936397
hapmaprs28936397
1000 genomesrs28936397
hgdprs28936397
ensemblrs28936397
gopubmedrs28936397
geneviewrs28936397
scholarrs28936397
googlers28936397
pharmgkbrs28936397
gwascentralrs28936397
openSNPrs28936397
23andMers28936397
23andMe allrs28936397
SNP Nexus

SNPshotrs28936397
SNPdbers28936397
MSV3drs28936397
GWAS Ctlgrs28936397
Max Magnitude0
OMIM601146
DescBRACHYDACTYLY, TYPE C
Variant0008
Relatedalso
Neighborrs143383
Distance791


ClinVar
Risk rs28936397(C,G;C,G)
Alt rs28936397(C,G;C,G)
Reference rs28936397(A;A)
Significance Pathogenic
Disease Brachydactyly type C
Variation info
Gene GDF5
CLNDBN Brachydactyly type C
Reversed 1
HGVS NC_000020.10:g.34025192T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008891.2,