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rs797045613

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045613(A;A)
Make rs797045613(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position72464699
GeneHDAC8
is asnp
is mentioned by
dbSNPrs797045613
ebirs797045613
HLIrs797045613
Exacrs797045613
Varsomers797045613
Maprs797045613
PheGenIrs797045613
hapmaprs797045613
1000 genomesrs797045613
hgdprs797045613
ensemblrs797045613
gopubmedrs797045613
geneviewrs797045613
scholarrs797045613
googlers797045613
pharmgkbrs797045613
gwascentralrs797045613
openSNPrs797045613
23andMers797045613
23andMe allrs797045613
SNP Nexus

SNPshotrs797045613
SNPdbers797045613
MSV3drs797045613
GWAS Ctlgrs797045613
Max Magnitude0
ClinVar
Risk rs797045613(A;A)
Alt rs797045613(A;A)
Reference rs797045613(C;C)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 5
Variation info
Gene HDAC8
CLNDBN Cornelia de Lange syndrome 5
Reversed 1
HGVS NC_000023.10:g.71684549G>T
CLNSRC
CLNACC RCV000192571.1,