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rs587783663

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783663(-;-)
Make rs587783663(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position72572090
GeneHDAC8
is asnp
is mentioned by
dbSNPrs587783663
ebirs587783663
HLIrs587783663
Exacrs587783663
Varsomers587783663
Maprs587783663
PheGenIrs587783663
hapmaprs587783663
1000 genomesrs587783663
hgdprs587783663
ensemblrs587783663
gopubmedrs587783663
geneviewrs587783663
scholarrs587783663
googlers587783663
pharmgkbrs587783663
gwascentralrs587783663
openSNPrs587783663
23andMers587783663
23andMe allrs587783663
SNP Nexus

SNPshotrs587783663
SNPdbers587783663
MSV3drs587783663
GWAS Ctlgrs587783663
Max Magnitude0
ClinVar
Risk rs587783663(;)
Alt rs587783663(;)
Reference rs587783663(T;T)
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.71791940delA
CLNSRC
CLNACC RCV000146087.1,