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rs398122814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs398122814(-;-)
Make rs398122814(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154442421
GeneFAM50A, GDI1
is asnp
is mentioned by
dbSNPrs398122814
dbSNP (classic)rs398122814
ClinGenrs398122814
ebirs398122814
HLIrs398122814
Exacrs398122814
Gnomadrs398122814
Varsomers398122814
LitVarrs398122814
Maprs398122814
PheGenIrs398122814
Biobankrs398122814
1000 genomesrs398122814
hgdprs398122814
ensemblrs398122814
geneviewrs398122814
scholarrs398122814
googlers398122814
pharmgkbrs398122814
gwascentralrs398122814
openSNPrs398122814
23andMers398122814
SNPshotrs398122814
SNPdbers398122814
MSV3drs398122814
GWAS Ctlgrs398122814
Max Magnitude0
ClinVar
Risk rs398122814(-;-)
Alt rs398122814(-;-)
Reference Rs398122814(GA;GA)
Significance Pathogenic
Disease X-Linked Mental Retardation 41
Variation info
Gene FAM50A GDI1
CLNDBN X-Linked Mental Retardation 41
Reversed 0
HGVS NC_000023.10:g.153670768_153670769delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022824.24,