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rs121909354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909354(G;T)
Make rs121909354(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position96160568
GeneGDF6
is asnp
is mentioned by
dbSNPrs121909354
ebirs121909354
HLIrs121909354
Exacrs121909354
Varsomers121909354
Maprs121909354
PheGenIrs121909354
hapmaprs121909354
1000 genomesrs121909354
hgdprs121909354
ensemblrs121909354
gopubmedrs121909354
geneviewrs121909354
scholarrs121909354
googlers121909354
pharmgkbrs121909354
gwascentralrs121909354
openSNPrs121909354
23andMers121909354
23andMe allrs121909354
SNP Nexus

SNPshotrs121909354
SNPdbers121909354
MSV3drs121909354
GWAS Ctlgrs121909354
GMAF0.002296
Max Magnitude0
OMIM601147
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909354(C,T;C,T)
Alt rs121909354(C,T;C,T)
Reference rs121909354(G;G)
Significance Pathogenic
Disease Klippel-Feil syndrome 1
Variation info
Gene GDF6
CLNDBN Klippel-Feil syndrome 1, autosomal dominant
Reversed 1
HGVS NC_000008.10:g.97172796C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008880.2,