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rs1057515581

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057515581(-;TA)
Make rs1057515581(TA;TA)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53217906
GeneKDM5C
is asnp
is mentioned by
dbSNPrs1057515581
dbSNP (old)rs1057515581
ClinGenrs1057515581
ebirs1057515581
HLIrs1057515581
Exacrs1057515581
Gnomadrs1057515581
Varsomers1057515581
Maprs1057515581
PheGenIrs1057515581
Biobankrs1057515581
1000 genomesrs1057515581
hgdprs1057515581
ensemblrs1057515581
gopubmedrs1057515581
geneviewrs1057515581
scholarrs1057515581
googlers1057515581
pharmgkbrs1057515581
gwascentralrs1057515581
openSNPrs1057515581
23andMers1057515581
23andMe allrs1057515581
SNPshotrs1057515581
SNPdbers1057515581
MSV3drs1057515581
GWAS Ctlgrs1057515581
Max Magnitude0
ClinVar
Risk rs1057515581(TA;TA)
Alt rs1057515581(TA;TA)
Reference Rs1057515581(-;-)
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.53247088_53247089insTA
CLNSRC
CLNACC RCV000379085.1,