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rs113994160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994160(C;T)
Make rs113994160(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8123096
GeneHES7
is asnp
is mentioned by
dbSNPrs113994160
ebirs113994160
HLIrs113994160
Exacrs113994160
Varsomers113994160
Maprs113994160
PheGenIrs113994160
hapmaprs113994160
1000 genomesrs113994160
hgdprs113994160
ensemblrs113994160
gopubmedrs113994160
geneviewrs113994160
scholarrs113994160
googlers113994160
pharmgkbrs113994160
gwascentralrs113994160
openSNPrs113994160
23andMers113994160
23andMe allrs113994160
SNP Nexus

SNPshotrs113994160
SNPdbers113994160
MSV3drs113994160
GWAS Ctlgrs113994160
Max Magnitude0
ClinVar
Risk rs113994160(T;T)
Alt rs113994160(T;T)
Reference rs113994160(C;C)
Significance Pathogenic
Disease Spondylocostal dysostosis 5 Spondylocostal dysostosis 4
Variation info
Gene HES7
CLNDBN Spondylocostal dysostosis 5 Spondylocostal dysostosis 4, autosomal recessive
Reversed 1
HGVS NC_000017.10:g.8026414G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023674.2, RCV000034271.2,