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rs397515415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515415(C;T)
Make rs397515415(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72495216
GeneHDAC8
is asnp
is mentioned by
dbSNPrs397515415
ebirs397515415
HLIrs397515415
Exacrs397515415
Varsomers397515415
Maprs397515415
PheGenIrs397515415
hapmaprs397515415
1000 genomesrs397515415
hgdprs397515415
ensemblrs397515415
gopubmedrs397515415
geneviewrs397515415
scholarrs397515415
googlers397515415
pharmgkbrs397515415
gwascentralrs397515415
openSNPrs397515415
23andMers397515415
23andMe allrs397515415
SNP Nexus

SNPshotrs397515415
SNPdbers397515415
MSV3drs397515415
GWAS Ctlgrs397515415
Max Magnitude0
ClinVar
Risk rs397515415(T;T)
Alt rs397515415(T;T)
Reference rs397515415(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.71715066G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032915.11,