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rs199422234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422234(C;T)
Make rs199422234(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53199029
GeneKDM5C
is asnp
is mentioned by
dbSNPrs199422234
ebirs199422234
HLIrs199422234
Exacrs199422234
Varsomers199422234
Maprs199422234
PheGenIrs199422234
hapmaprs199422234
1000 genomesrs199422234
hgdprs199422234
ensemblrs199422234
gopubmedrs199422234
geneviewrs199422234
scholarrs199422234
googlers199422234
pharmgkbrs199422234
gwascentralrs199422234
openSNPrs199422234
23andMers199422234
23andMe allrs199422234
SNP Nexus

SNPshotrs199422234
SNPdbers199422234
MSV3drs199422234
GWAS Ctlgrs199422234
Max Magnitude0
ClinVar
Risk rs199422234(T;T)
Alt rs199422234(T;T)
Reference rs199422234(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MIR6894 KDM5C
CLNDBN Mental retardation, syndromic, Claes-Jensen type, X-linked
Reversed 1
HGVS NC_000023.10:g.53228211G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010426.3,