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rs121434609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434609(C;C)
Make rs121434609(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154442596
GeneFAM50A, GDI1
is asnp
is mentioned by
dbSNPrs121434609
dbSNP (classic)rs121434609
ClinGenrs121434609
ebirs121434609
HLIrs121434609
Exacrs121434609
Gnomadrs121434609
Varsomers121434609
LitVarrs121434609
Maprs121434609
PheGenIrs121434609
Biobankrs121434609
1000 genomesrs121434609
hgdprs121434609
ensemblrs121434609
geneviewrs121434609
scholarrs121434609
googlers121434609
pharmgkbrs121434609
gwascentralrs121434609
openSNPrs121434609
23andMers121434609
SNPshotrs121434609
SNPdbers121434609
MSV3drs121434609
GWAS Ctlgrs121434609
Max Magnitude0
OMIM300104
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434609(C;C)
Alt rs121434609(C;C)
Reference Rs121434609(G;G)
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.153670943G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012394.24,