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rs397515418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515418(A;G)
Make rs397515418(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72462008
GeneHDAC8
is asnp
is mentioned by
dbSNPrs397515418
ebirs397515418
HLIrs397515418
Exacrs397515418
Varsomers397515418
Maprs397515418
PheGenIrs397515418
hapmaprs397515418
1000 genomesrs397515418
hgdprs397515418
ensemblrs397515418
gopubmedrs397515418
geneviewrs397515418
scholarrs397515418
googlers397515418
pharmgkbrs397515418
gwascentralrs397515418
openSNPrs397515418
23andMers397515418
23andMe allrs397515418
SNP Nexus

SNPshotrs397515418
SNPdbers397515418
MSV3drs397515418
GWAS Ctlgrs397515418
Max Magnitude0
ClinVar
Risk rs397515418(G;G)
Alt rs397515418(G;G)
Reference rs397515418(A;A)
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.71681858T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032919.11,