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rs118204093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204093(C;T)
Make rs118204093(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75957555
GeneACOX1
is asnp
is mentioned by
dbSNPrs118204093
ebirs118204093
HLIrs118204093
Exacrs118204093
Varsomers118204093
Maprs118204093
PheGenIrs118204093
hapmaprs118204093
1000 genomesrs118204093
hgdprs118204093
ensemblrs118204093
gopubmedrs118204093
geneviewrs118204093
scholarrs118204093
googlers118204093
pharmgkbrs118204093
gwascentralrs118204093
openSNPrs118204093
23andMers118204093
23andMe allrs118204093
SNP Nexus

SNPshotrs118204093
SNPdbers118204093
MSV3drs118204093
GWAS Ctlgrs118204093
Max Magnitude0
OMIM609751
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118204093(T;T)
Alt rs118204093(T;T)
Reference rs118204093(C;C)
Significance Pathogenic
Disease Pseudoneonatal adrenoleukodystrophy
Variation info
Gene ACOX1
CLNDBN Pseudoneonatal adrenoleukodystrophy
Reversed 1
HGVS NC_000017.10:g.73953636G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001567.2,