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rs199422236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422236(C;T)
Make rs199422236(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53199140
GeneKDM5C
is asnp
is mentioned by
dbSNPrs199422236
ebirs199422236
HLIrs199422236
Exacrs199422236
Varsomers199422236
Maprs199422236
PheGenIrs199422236
hapmaprs199422236
1000 genomesrs199422236
hgdprs199422236
ensemblrs199422236
gopubmedrs199422236
geneviewrs199422236
scholarrs199422236
googlers199422236
pharmgkbrs199422236
gwascentralrs199422236
openSNPrs199422236
23andMers199422236
23andMe allrs199422236
SNP Nexus

SNPshotrs199422236
SNPdbers199422236
MSV3drs199422236
GWAS Ctlgrs199422236
Max Magnitude0
ClinVar
Risk rs199422236(T;T)
Alt rs199422236(T;T)
Reference rs199422236(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KDM5C MIR6894
CLNDBN Mental retardation, syndromic, Claes-Jensen type, X-linked
Reversed 1
HGVS NC_000023.10:g.53228322G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010429.2,