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rs397518478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397518478(-;-)
Make rs397518478(-;A)
Make rs397518478(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74740959
GeneKIAA2022
is asnp
is mentioned by
dbSNPrs397518478
ebirs397518478
HLIrs397518478
Exacrs397518478
Varsomers397518478
Maprs397518478
PheGenIrs397518478
hapmaprs397518478
1000 genomesrs397518478
hgdprs397518478
ensemblrs397518478
gopubmedrs397518478
geneviewrs397518478
scholarrs397518478
googlers397518478
pharmgkbrs397518478
gwascentralrs397518478
openSNPrs397518478
23andMers397518478
23andMe allrs397518478
SNP Nexus

SNPshotrs397518478
SNPdbers397518478
MSV3drs397518478
GWAS Ctlgrs397518478
Max Magnitude0
ClinVar
Risk rs397518478(A;A)
Alt rs397518478(A;A)
Reference Rs397518478(;)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIAA2022
CLNDBN Mental retardation, X-linked 98
Reversed 1
HGVS NC_000023.10:g.73960795dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000074404.2,