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rs397515417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515417(C;T)
Make rs397515417(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72462077
GeneHDAC8
is asnp
is mentioned by
dbSNPrs397515417
ebirs397515417
HLIrs397515417
Exacrs397515417
Varsomers397515417
Maprs397515417
PheGenIrs397515417
hapmaprs397515417
1000 genomesrs397515417
hgdprs397515417
ensemblrs397515417
gopubmedrs397515417
geneviewrs397515417
scholarrs397515417
googlers397515417
pharmgkbrs397515417
gwascentralrs397515417
openSNPrs397515417
23andMers397515417
23andMe allrs397515417
SNP Nexus

SNPshotrs397515417
SNPdbers397515417
MSV3drs397515417
GWAS Ctlgrs397515417
Max Magnitude0
ClinVar
Risk rs397515417(T;T)
Alt rs397515417(T;T)
Reference rs397515417(C;C)
Significance Pathogenic
Disease Cornelia de Lange syndrome 5
Variation info
Gene HDAC8
CLNDBN Cornelia de Lange syndrome 5
Reversed 1
HGVS NC_000023.10:g.71681927G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032917.17,