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rs387906978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906978(G;T)
Make rs387906978(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8121693
GeneHES7
is asnp
is mentioned by
dbSNPrs387906978
ebirs387906978
HLIrs387906978
Exacrs387906978
Varsomers387906978
Maprs387906978
PheGenIrs387906978
hapmaprs387906978
1000 genomesrs387906978
hgdprs387906978
ensemblrs387906978
gopubmedrs387906978
geneviewrs387906978
scholarrs387906978
googlers387906978
pharmgkbrs387906978
gwascentralrs387906978
openSNPrs387906978
23andMers387906978
23andMe allrs387906978
SNP Nexus

SNPshotrs387906978
SNPdbers387906978
MSV3drs387906978
GWAS Ctlgrs387906978
Max Magnitude0
ClinVar
Risk rs387906978(T;T)
Alt rs387906978(T;T)
Reference rs387906978(G;G)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene HES7
CLNDBN Spondylocostal dysostosis 5
Reversed 1
HGVS NC_000017.10:g.8025011C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023675.3,