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rs122458139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122458139(C;T)
Make rs122458139(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position109674403
GeneACSL4
is asnp
is mentioned by
dbSNPrs122458139
ebirs122458139
HLIrs122458139
Exacrs122458139
Varsomers122458139
Maprs122458139
PheGenIrs122458139
hapmaprs122458139
1000 genomesrs122458139
hgdprs122458139
ensemblrs122458139
gopubmedrs122458139
geneviewrs122458139
scholarrs122458139
googlers122458139
pharmgkbrs122458139
gwascentralrs122458139
openSNPrs122458139
23andMers122458139
23andMe allrs122458139
SNP Nexus

SNPshotrs122458139
SNPdbers122458139
MSV3drs122458139
GWAS Ctlgrs122458139
Max Magnitude0
OMIM300157
Desc
Variant0003
Relatedalso
ClinVar
Risk rs122458139(T;T)
Alt rs122458139(T;T)
Reference rs122458139(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.108917632G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012322.22,