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rs797044706

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044706(G;T)
Make rs797044706(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53218275
GeneKDM5C
is asnp
is mentioned by
dbSNPrs797044706
ebirs797044706
HLIrs797044706
Exacrs797044706
Varsomers797044706
Maprs797044706
PheGenIrs797044706
hapmaprs797044706
1000 genomesrs797044706
hgdprs797044706
ensemblrs797044706
gopubmedrs797044706
geneviewrs797044706
scholarrs797044706
googlers797044706
pharmgkbrs797044706
gwascentralrs797044706
openSNPrs797044706
23andMers797044706
23andMe allrs797044706
SNP Nexus

SNPshotrs797044706
SNPdbers797044706
MSV3drs797044706
GWAS Ctlgrs797044706
Max Magnitude0
ClinVar
Risk rs797044706(T;T)
Alt rs797044706(T;T)
Reference rs797044706(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.53247457C>A
CLNSRC
CLNACC RCV000177191.1,