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rs397515416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515416(A;G)
Make rs397515416(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72495167
GeneHDAC8
is asnp
is mentioned by
dbSNPrs397515416
ebirs397515416
HLIrs397515416
Exacrs397515416
Varsomers397515416
Maprs397515416
PheGenIrs397515416
hapmaprs397515416
1000 genomesrs397515416
hgdprs397515416
ensemblrs397515416
gopubmedrs397515416
geneviewrs397515416
scholarrs397515416
googlers397515416
pharmgkbrs397515416
gwascentralrs397515416
openSNPrs397515416
23andMers397515416
23andMe allrs397515416
SNP Nexus

SNPshotrs397515416
SNPdbers397515416
MSV3drs397515416
GWAS Ctlgrs397515416
Max Magnitude0
ClinVar
Risk rs397515416(G;G)
Alt rs397515416(G;G)
Reference rs397515416(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.71715017T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032916.11,