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rs797044731

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044731(A;A)
Make rs797044731(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53217832
GeneKDM5C
is asnp
is mentioned by
dbSNPrs797044731
ebirs797044731
HLIrs797044731
Exacrs797044731
Varsomers797044731
Maprs797044731
PheGenIrs797044731
hapmaprs797044731
1000 genomesrs797044731
hgdprs797044731
ensemblrs797044731
gopubmedrs797044731
geneviewrs797044731
scholarrs797044731
googlers797044731
pharmgkbrs797044731
gwascentralrs797044731
openSNPrs797044731
23andMers797044731
23andMe allrs797044731
SNP Nexus

SNPshotrs797044731
SNPdbers797044731
MSV3drs797044731
GWAS Ctlgrs797044731
Max Magnitude0
ClinVar
Risk rs797044731(A;A)
Alt rs797044731(A;A)
Reference rs797044731(T;T)
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.53247014A>T
CLNSRC
CLNACC RCV000178206.1,