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rs281860639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281860639(A;A)
Make rs281860639(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53199048
GeneKDM5C
is asnp
is mentioned by
dbSNPrs281860639
ebirs281860639
HLIrs281860639
Exacrs281860639
Varsomers281860639
Maprs281860639
PheGenIrs281860639
hapmaprs281860639
1000 genomesrs281860639
hgdprs281860639
ensemblrs281860639
gopubmedrs281860639
geneviewrs281860639
scholarrs281860639
googlers281860639
pharmgkbrs281860639
gwascentralrs281860639
openSNPrs281860639
23andMers281860639
23andMe allrs281860639
SNP Nexus

SNPshotrs281860639
SNPdbers281860639
MSV3drs281860639
GWAS Ctlgrs281860639
Max Magnitude0
ClinVar
Risk rs281860639(A;A)
Alt rs281860639(A;A)
Reference rs281860639(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.53228230G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022890.3,