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rs1057519393

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519393(-;T)
Make rs1057519393(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53197768
GeneKDM5C
is asnp
is mentioned by
dbSNPrs1057519393
dbSNP (old)rs1057519393
ClinGenrs1057519393
ebirs1057519393
HLIrs1057519393
Exacrs1057519393
Gnomadrs1057519393
Varsomers1057519393
Maprs1057519393
PheGenIrs1057519393
Biobankrs1057519393
1000 genomesrs1057519393
hgdprs1057519393
ensemblrs1057519393
gopubmedrs1057519393
geneviewrs1057519393
scholarrs1057519393
googlers1057519393
pharmgkbrs1057519393
gwascentralrs1057519393
openSNPrs1057519393
23andMers1057519393
23andMe allrs1057519393
SNPshotrs1057519393
SNPdbers1057519393
MSV3drs1057519393
GWAS Ctlgrs1057519393
Max Magnitude0
ClinVar
Risk rs1057519393(T;T)
Alt rs1057519393(T;T)
Reference Rs1057519393(-;-)
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.53226951dupA
CLNSRC
CLNACC RCV000417058.1,