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rs797045612

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045612(A;A)
Make rs797045612(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position72491001
GeneHDAC8
is asnp
is mentioned by
dbSNPrs797045612
ebirs797045612
HLIrs797045612
Exacrs797045612
Varsomers797045612
Maprs797045612
PheGenIrs797045612
hapmaprs797045612
1000 genomesrs797045612
hgdprs797045612
ensemblrs797045612
gopubmedrs797045612
geneviewrs797045612
scholarrs797045612
googlers797045612
pharmgkbrs797045612
gwascentralrs797045612
openSNPrs797045612
23andMers797045612
23andMe allrs797045612
SNP Nexus

SNPshotrs797045612
SNPdbers797045612
MSV3drs797045612
GWAS Ctlgrs797045612
Max Magnitude0
ClinVar
Risk rs797045612(A;A)
Alt rs797045612(A;A)
Reference rs797045612(G;G)
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.71710851C>T
CLNSRC
CLNACC RCV000194360.1,