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rs797045610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTGA;TTGA) 0 common in clinvar
Make rs797045610(-;-)
Make rs797045610(-;TTGA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position72572084
GeneHDAC8
is asnp
is mentioned by
dbSNPrs797045610
ClinGenrs797045610
ebirs797045610
HLIrs797045610
Exacrs797045610
Varsomers797045610
Maprs797045610
PheGenIrs797045610
hapmaprs797045610
1000 genomesrs797045610
hgdprs797045610
ensemblrs797045610
gopubmedrs797045610
geneviewrs797045610
scholarrs797045610
googlers797045610
pharmgkbrs797045610
gwascentralrs797045610
openSNPrs797045610
23andMers797045610
23andMe allrs797045610
SNP Nexus

SNPshotrs797045610
SNPdbers797045610
MSV3drs797045610
GWAS Ctlgrs797045610
Max Magnitude0
ClinVar
Risk rs797045610(-;-)
Alt rs797045610(-;-)
Reference Rs797045610(TTGA;TTGA)
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.71791934_71791937delTCAA
CLNSRC
CLNACC RCV000194427.1,