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rs587779380

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779380(C;T)
Make rs587779380(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position72567970
GeneHDAC8
is asnp
is mentioned by
dbSNPrs587779380
ebirs587779380
HLIrs587779380
Exacrs587779380
Varsomers587779380
Maprs587779380
PheGenIrs587779380
hapmaprs587779380
1000 genomesrs587779380
hgdprs587779380
ensemblrs587779380
gopubmedrs587779380
geneviewrs587779380
scholarrs587779380
googlers587779380
pharmgkbrs587779380
gwascentralrs587779380
openSNPrs587779380
23andMers587779380
23andMe allrs587779380
SNP Nexus

SNPshotrs587779380
SNPdbers587779380
MSV3drs587779380
GWAS Ctlgrs587779380
Max Magnitude0
ClinVar
Risk rs587779380(T;T)
Alt rs587779380(T;T)
Reference rs587779380(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.71787820G>A
CLNSRC
CLNACC RCV000077779.2,