Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519331(A;A)
Make rs1057519331(A;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position40589122
GeneATP6AP2
is asnp
is mentioned by
dbSNPrs1057519331
dbSNP (old)rs1057519331
ClinGenrs1057519331
ebirs1057519331
HLIrs1057519331
Exacrs1057519331
Gnomadrs1057519331
Varsomers1057519331
Maprs1057519331
PheGenIrs1057519331
Biobankrs1057519331
1000 genomesrs1057519331
hgdprs1057519331
ensemblrs1057519331
gopubmedrs1057519331
geneviewrs1057519331
scholarrs1057519331
googlers1057519331
pharmgkbrs1057519331
gwascentralrs1057519331
openSNPrs1057519331
23andMers1057519331
23andMe allrs1057519331
SNPshotrs1057519331
SNPdbers1057519331
MSV3drs1057519331
GWAS Ctlgrs1057519331
Max Magnitude0
ClinVar
Risk rs1057519331(A;A)
Alt rs1057519331(A;A)
Reference Rs1057519331(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene ATP6AP2
CLNDBN Mental retardation, X-linked, syndromic, Hedera type
Reversed 0
HGVS NC_000023.10:g.40448374T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000416367.1,