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rs387906729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906729(A;A)
Make rs387906729(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53210500
GeneKDM5C
is asnp
is mentioned by
dbSNPrs387906729
ebirs387906729
HLIrs387906729
Exacrs387906729
Varsomers387906729
Maprs387906729
PheGenIrs387906729
hapmaprs387906729
1000 genomesrs387906729
hgdprs387906729
ensemblrs387906729
gopubmedrs387906729
geneviewrs387906729
scholarrs387906729
googlers387906729
pharmgkbrs387906729
gwascentralrs387906729
openSNPrs387906729
23andMers387906729
23andMe allrs387906729
SNP Nexus

SNPshotrs387906729
SNPdbers387906729
MSV3drs387906729
GWAS Ctlgrs387906729
Max Magnitude0
ClinVar
Risk rs387906729(A;A)
Alt rs387906729(A;A)
Reference rs387906729(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.53239682G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022891.3,