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rs1057518730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1057518730(-;-)
Make rs1057518730(-;GT)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position74743180
GeneKIAA2022
is asnp
is mentioned by
dbSNPrs1057518730
dbSNP (old)rs1057518730
ClinGenrs1057518730
ebirs1057518730
HLIrs1057518730
Exacrs1057518730
Gnomadrs1057518730
Varsomers1057518730
Maprs1057518730
PheGenIrs1057518730
Biobankrs1057518730
1000 genomesrs1057518730
hgdprs1057518730
ensemblrs1057518730
gopubmedrs1057518730
geneviewrs1057518730
scholarrs1057518730
googlers1057518730
pharmgkbrs1057518730
gwascentralrs1057518730
openSNPrs1057518730
23andMers1057518730
23andMe allrs1057518730
SNPshotrs1057518730
SNPdbers1057518730
MSV3drs1057518730
GWAS Ctlgrs1057518730
Max Magnitude0
ClinVar
Risk rs1057518730(-;-)
Alt rs1057518730(-;-)
Reference Rs1057518730(GT;GT)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIAA2022
CLNDBN Mental retardation, X-linked 98
Reversed 1
HGVS NC_000023.10:g.73963015_73963016delAC
CLNSRC
CLNACC RCV000414773.1,