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rs199422238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422238(C;T)
Make rs199422238(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53198836
GeneKDM5C
is asnp
is mentioned by
dbSNPrs199422238
ebirs199422238
HLIrs199422238
Exacrs199422238
Varsomers199422238
Maprs199422238
PheGenIrs199422238
hapmaprs199422238
1000 genomesrs199422238
hgdprs199422238
ensemblrs199422238
gopubmedrs199422238
geneviewrs199422238
scholarrs199422238
googlers199422238
pharmgkbrs199422238
gwascentralrs199422238
openSNPrs199422238
23andMers199422238
23andMe allrs199422238
SNP Nexus

SNPshotrs199422238
SNPdbers199422238
MSV3drs199422238
GWAS Ctlgrs199422238
Max Magnitude0
ClinVar
Risk rs199422238(T;T)
Alt rs199422238(T;T)
Reference rs199422238(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.53228018G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010431.2,