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rs398122970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122970(-;-)
Make rs398122970(-;AAACCGCCCC)
Make rs398122970(AAACCGCCCC;AAACCGCCCC)
ReferenceGRCh38 38.1/141
Chromosome17
Position8121854
GeneHES7
is asnp
is mentioned by
dbSNPrs398122970
ebirs398122970
HLIrs398122970
Exacrs398122970
Varsomers398122970
Maprs398122970
PheGenIrs398122970
hapmaprs398122970
1000 genomesrs398122970
hgdprs398122970
ensemblrs398122970
gopubmedrs398122970
geneviewrs398122970
scholarrs398122970
googlers398122970
pharmgkbrs398122970
gwascentralrs398122970
openSNPrs398122970
23andMers398122970
23andMe allrs398122970
SNP Nexus

SNPshotrs398122970
SNPdbers398122970
MSV3drs398122970
GWAS Ctlgrs398122970
Max Magnitude0
ClinVar
Risk rs398122970(AAACCGCCCC;AAACCGCCCC)
Alt rs398122970(AAACCGCCCC;AAACCGCCCC)
Reference rs398122970(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene HES7
CLNDBN Spondylocostal dysostosis 5
Reversed 1
HGVS NC_000017.10:g.8025173_8025182dupGGGGCGGTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000076921.3,