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rs199422237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422237(C;G)
Make rs199422237(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53211545
GeneKDM5C
is asnp
is mentioned by
dbSNPrs199422237
ebirs199422237
HLIrs199422237
Exacrs199422237
Varsomers199422237
Maprs199422237
PheGenIrs199422237
hapmaprs199422237
1000 genomesrs199422237
hgdprs199422237
ensemblrs199422237
gopubmedrs199422237
geneviewrs199422237
scholarrs199422237
googlers199422237
pharmgkbrs199422237
gwascentralrs199422237
openSNPrs199422237
23andMers199422237
23andMe allrs199422237
SNP Nexus

SNPshotrs199422237
SNPdbers199422237
MSV3drs199422237
GWAS Ctlgrs199422237
Max Magnitude0
ClinVar
Risk rs199422237(G,T;G,T)
Alt rs199422237(G,T;G,T)
Reference rs199422237(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KDM5C
CLNDBN Mental retardation, syndromic, Claes-Jensen type, X-linked
Reversed 1
HGVS NC_000023.10:g.53240727G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010430.3,