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rs587780372

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780372(C;T)
Make rs587780372(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53210547
GeneKDM5C
is asnp
is mentioned by
dbSNPrs587780372
ebirs587780372
HLIrs587780372
Exacrs587780372
Varsomers587780372
Maprs587780372
PheGenIrs587780372
hapmaprs587780372
1000 genomesrs587780372
hgdprs587780372
ensemblrs587780372
gopubmedrs587780372
geneviewrs587780372
scholarrs587780372
googlers587780372
pharmgkbrs587780372
gwascentralrs587780372
openSNPrs587780372
23andMers587780372
23andMe allrs587780372
SNP Nexus

SNPshotrs587780372
SNPdbers587780372
MSV3drs587780372
GWAS Ctlgrs587780372
Max Magnitude0
ClinVar
Risk rs587780372(T;T)
Alt rs587780372(T;T)
Reference rs587780372(C;C)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene KDM5C
CLNDBN Mental retardation, syndromic, Claes-Jensen type, X-linked
Reversed 1
HGVS NC_000023.10:g.53239729G>A
CLNSRC
CLNACC RCV000117381.2,