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rs1057518729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518729(-;-)
Make rs1057518729(-;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position54017738
GenePHF8
is asnp
is mentioned by
dbSNPrs1057518729
dbSNP (old)rs1057518729
ClinGenrs1057518729
ebirs1057518729
HLIrs1057518729
Exacrs1057518729
Gnomadrs1057518729
Varsomers1057518729
Maprs1057518729
PheGenIrs1057518729
Biobankrs1057518729
1000 genomesrs1057518729
hgdprs1057518729
ensemblrs1057518729
gopubmedrs1057518729
geneviewrs1057518729
scholarrs1057518729
googlers1057518729
pharmgkbrs1057518729
gwascentralrs1057518729
openSNPrs1057518729
23andMers1057518729
23andMe allrs1057518729
SNPshotrs1057518729
SNPdbers1057518729
MSV3drs1057518729
GWAS Ctlgrs1057518729
Max Magnitude0
ClinVar
Risk rs1057518729(-;-)
Alt rs1057518729(-;-)
Reference Rs1057518729(T;T)
Significance Pathogenic
Disease Siderius X-linked mental retardation syndrome
Variation info
Gene PHF8
CLNDBN Siderius X-linked mental retardation syndrome
Reversed 1
HGVS NC_000023.10:g.54044171delA
CLNSRC
CLNACC RCV000414958.1,