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rs869312686

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312686(C;G)
Make rs869312686(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153952053
GeneHCFC1
is asnp
is mentioned by
dbSNPrs869312686
dbSNP (classic)rs869312686
ClinGenrs869312686
ebirs869312686
HLIrs869312686
Exacrs869312686
Gnomadrs869312686
Varsomers869312686
LitVarrs869312686
Maprs869312686
PheGenIrs869312686
Biobankrs869312686
1000 genomesrs869312686
hgdprs869312686
ensemblrs869312686
geneviewrs869312686
scholarrs869312686
googlers869312686
pharmgkbrs869312686
gwascentralrs869312686
openSNPrs869312686
23andMers869312686
SNPshotrs869312686
SNPdbers869312686
MSV3drs869312686
GWAS Ctlgrs869312686
Max Magnitude0
ClinVar
Risk rs869312686(G;G)
Alt rs869312686(G;G)
Reference Rs869312686(C;C)
Significance Pathogenic
Disease Mental retardation 3
Variation info
Gene HCFC1
CLNDBN Mental retardation 3, X-linked
Reversed 1
HGVS NC_000023.10:g.153217504G>C
CLNSRC
CLNACC RCV000209921.1,