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rs398122909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122909(A;A)
Make rs398122909(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position72462051
GeneHDAC8
is asnp
is mentioned by
dbSNPrs398122909
dbSNP (classic)rs398122909
ClinGenrs398122909
ebirs398122909
HLIrs398122909
Exacrs398122909
Gnomadrs398122909
Varsomers398122909
LitVarrs398122909
Maprs398122909
PheGenIrs398122909
Biobankrs398122909
1000 genomesrs398122909
hgdprs398122909
ensemblrs398122909
geneviewrs398122909
scholarrs398122909
googlers398122909
pharmgkbrs398122909
gwascentralrs398122909
openSNPrs398122909
23andMers398122909
SNPshotrs398122909
SNPdbers398122909
MSV3drs398122909
GWAS Ctlgrs398122909
Max Magnitude0
ClinVar
Risk rs398122909(A;A)
Alt rs398122909(A;A)
Reference Rs398122909(G;G)
Significance Pathogenic
Disease Cornelia de Lange syndrome 5 not specified
Variation info
Gene HDAC8
CLNDBN Cornelia de Lange syndrome 5 not specified
Reversed 1
HGVS NC_000023.10:g.71681901C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032918.11, RCV000211117.1,