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rs199422239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422239(A;A)
Make rs199422239(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53218398
GeneKDM5C
is asnp
is mentioned by
dbSNPrs199422239
ebirs199422239
HLIrs199422239
Exacrs199422239
Varsomers199422239
Maprs199422239
PheGenIrs199422239
hapmaprs199422239
1000 genomesrs199422239
hgdprs199422239
ensemblrs199422239
gopubmedrs199422239
geneviewrs199422239
scholarrs199422239
googlers199422239
pharmgkbrs199422239
gwascentralrs199422239
openSNPrs199422239
23andMers199422239
23andMe allrs199422239
SNP Nexus

SNPshotrs199422239
SNPdbers199422239
MSV3drs199422239
GWAS Ctlgrs199422239
Max Magnitude0
ClinVar
Risk rs199422239(A;A)
Alt rs199422239(A;A)
Reference rs199422239(G;G)
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.53247580C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010432.4,