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rs1057518697

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518697(C;T)
Make rs1057518697(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53210820
GeneKDM5C
is asnp
is mentioned by
dbSNPrs1057518697
dbSNP (old)rs1057518697
ClinGenrs1057518697
ebirs1057518697
HLIrs1057518697
Exacrs1057518697
Gnomadrs1057518697
Varsomers1057518697
Maprs1057518697
PheGenIrs1057518697
Biobankrs1057518697
1000 genomesrs1057518697
hgdprs1057518697
ensemblrs1057518697
gopubmedrs1057518697
geneviewrs1057518697
scholarrs1057518697
googlers1057518697
pharmgkbrs1057518697
gwascentralrs1057518697
openSNPrs1057518697
23andMers1057518697
23andMe allrs1057518697
SNPshotrs1057518697
SNPdbers1057518697
MSV3drs1057518697
GWAS Ctlgrs1057518697
Max Magnitude0
ClinVar
Risk rs1057518697(T;T)
Alt rs1057518697(T;T)
Reference Rs1057518697(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.53240002G>A
CLNSRC
CLNACC RCV000414804.1,