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rs397518479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518479(-;-)
Make rs397518479(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74744374
GeneKIAA2022
is asnp
is mentioned by
dbSNPrs397518479
ebirs397518479
HLIrs397518479
Exacrs397518479
Varsomers397518479
Maprs397518479
PheGenIrs397518479
hapmaprs397518479
1000 genomesrs397518479
hgdprs397518479
ensemblrs397518479
gopubmedrs397518479
geneviewrs397518479
scholarrs397518479
googlers397518479
pharmgkbrs397518479
gwascentralrs397518479
openSNPrs397518479
23andMers397518479
23andMe allrs397518479
SNP Nexus

SNPshotrs397518479
SNPdbers397518479
MSV3drs397518479
GWAS Ctlgrs397518479
Max Magnitude0
ClinVar
Risk rs397518479(;)
Alt rs397518479(;)
Reference rs397518479(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIAA2022
CLNDBN Mental retardation, X-linked 98
Reversed 1
HGVS NC_000023.10:g.73964209delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000074406.6,