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rs869312660

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312660(A;A)
Make rs869312660(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position72488932
GeneHDAC8
is asnp
is mentioned by
dbSNPrs869312660
ebirs869312660
HLIrs869312660
Exacrs869312660
Varsomers869312660
Maprs869312660
PheGenIrs869312660
hapmaprs869312660
1000 genomesrs869312660
hgdprs869312660
ensemblrs869312660
gopubmedrs869312660
geneviewrs869312660
scholarrs869312660
googlers869312660
pharmgkbrs869312660
gwascentralrs869312660
openSNPrs869312660
23andMers869312660
23andMe allrs869312660
SNP Nexus

SNPshotrs869312660
SNPdbers869312660
MSV3drs869312660
GWAS Ctlgrs869312660
Max Magnitude0
ClinVar
Risk rs869312660(A;A)
Alt rs869312660(A;A)
Reference rs869312660(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.71708782C>T
CLNSRC
CLNACC RCV000209849.1,