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rs1060499661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1060499661(-;-)
Make rs1060499661(-;CT)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53216085
GeneKDM5C
is asnp
is mentioned by
dbSNPrs1060499661
dbSNP (classic)rs1060499661
ClinGenrs1060499661
ebirs1060499661
HLIrs1060499661
Exacrs1060499661
Gnomadrs1060499661
Varsomers1060499661
LitVarrs1060499661
Maprs1060499661
PheGenIrs1060499661
Biobankrs1060499661
1000 genomesrs1060499661
hgdprs1060499661
ensemblrs1060499661
geneviewrs1060499661
scholarrs1060499661
googlers1060499661
pharmgkbrs1060499661
gwascentralrs1060499661
openSNPrs1060499661
23andMers1060499661
23andMe allrs1060499661
SNPshotrs1060499661
SNPdbers1060499661
MSV3drs1060499661
GWAS Ctlgrs1060499661
Max Magnitude0
ClinVar
Risk rs1060499661(-;-)
Alt rs1060499661(-;-)
Reference Rs1060499661(CT;CT)
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.53245267_53245268delAG
CLNSRC
CLNACC RCV000449524.1,