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rs122458138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122458138(A;A)
Make rs122458138(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position109661643
GeneACSL4
is asnp
is mentioned by
dbSNPrs122458138
dbSNP (classic)rs122458138
ClinGenrs122458138
ebirs122458138
HLIrs122458138
Exacrs122458138
Gnomadrs122458138
Varsomers122458138
LitVarrs122458138
Maprs122458138
PheGenIrs122458138
Biobankrs122458138
1000 genomesrs122458138
hgdprs122458138
ensemblrs122458138
geneviewrs122458138
scholarrs122458138
googlers122458138
pharmgkbrs122458138
gwascentralrs122458138
openSNPrs122458138
23andMers122458138
SNPshotrs122458138
SNPdbers122458138
MSV3drs122458138
GWAS Ctlgrs122458138
Max Magnitude0
OMIM300157
Desc
Variant0001
Relatedalso
ClinVar
Risk rs122458138(A;A)
Alt rs122458138(A;A)
Reference Rs122458138(C;C)
Significance Pathogenic
Disease Mental retardation 63
Variation info
Gene ACSL4
CLNDBN Mental retardation 63, X-linked
Reversed 1
HGVS NC_000023.10:g.108904872G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012320.14,