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rs797044665

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044665(C;G)
Make rs797044665(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53985147
GenePHF8
is asnp
is mentioned by
dbSNPrs797044665
ebirs797044665
HLIrs797044665
Exacrs797044665
Varsomers797044665
Maprs797044665
PheGenIrs797044665
hapmaprs797044665
1000 genomesrs797044665
hgdprs797044665
ensemblrs797044665
gopubmedrs797044665
geneviewrs797044665
scholarrs797044665
googlers797044665
pharmgkbrs797044665
gwascentralrs797044665
openSNPrs797044665
23andMers797044665
23andMe allrs797044665
SNP Nexus

SNPshotrs797044665
SNPdbers797044665
MSV3drs797044665
GWAS Ctlgrs797044665
Max Magnitude0
ClinVar
Risk rs797044665(G;G)
Alt rs797044665(G;G)
Reference rs797044665(C;C)
Significance Probable-Pathogenic
Disease Siderius X-linked mental retardation syndrome
Variation info
Gene PHF8
CLNDBN Siderius X-linked mental retardation syndrome
Reversed 1
HGVS NC_000023.10:g.54011580G>C
CLNSRC
CLNACC RCV000175335.1,