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rs387906979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906979(A;G)
Make rs387906979(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8122397
GeneHES7
is asnp
is mentioned by
dbSNPrs387906979
ebirs387906979
HLIrs387906979
Exacrs387906979
Varsomers387906979
Maprs387906979
PheGenIrs387906979
hapmaprs387906979
1000 genomesrs387906979
hgdprs387906979
ensemblrs387906979
gopubmedrs387906979
geneviewrs387906979
scholarrs387906979
googlers387906979
pharmgkbrs387906979
gwascentralrs387906979
openSNPrs387906979
23andMers387906979
23andMe allrs387906979
SNP Nexus

SNPshotrs387906979
SNPdbers387906979
MSV3drs387906979
GWAS Ctlgrs387906979
Max Magnitude0
ClinVar
Risk rs387906979(G;G)
Alt rs387906979(G;G)
Reference rs387906979(A;A)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene HES7
CLNDBN Spondylocostal dysostosis 5
Reversed 1
HGVS NC_000017.10:g.8025715T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023676.4,