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rs797045611

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045611(C;T)
Make rs797045611(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position72568820
GeneHDAC8
is asnp
is mentioned by
dbSNPrs797045611
ebirs797045611
HLIrs797045611
Exacrs797045611
Varsomers797045611
Maprs797045611
PheGenIrs797045611
hapmaprs797045611
1000 genomesrs797045611
hgdprs797045611
ensemblrs797045611
gopubmedrs797045611
geneviewrs797045611
scholarrs797045611
googlers797045611
pharmgkbrs797045611
gwascentralrs797045611
openSNPrs797045611
23andMers797045611
23andMe allrs797045611
SNP Nexus

SNPshotrs797045611
SNPdbers797045611
MSV3drs797045611
GWAS Ctlgrs797045611
Max Magnitude0
ClinVar
Risk rs797045611(T;T)
Alt rs797045611(T;T)
Reference rs797045611(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.71788670G>A
CLNSRC
CLNACC RCV000193465.1,