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rs118204091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204091(G;T)
Make rs118204091(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75957465
GeneACOX1
is asnp
is mentioned by
dbSNPrs118204091
ebirs118204091
HLIrs118204091
Exacrs118204091
Varsomers118204091
Maprs118204091
PheGenIrs118204091
hapmaprs118204091
1000 genomesrs118204091
hgdprs118204091
ensemblrs118204091
gopubmedrs118204091
geneviewrs118204091
scholarrs118204091
googlers118204091
pharmgkbrs118204091
gwascentralrs118204091
openSNPrs118204091
23andMers118204091
23andMe allrs118204091
SNP Nexus

SNPshotrs118204091
SNPdbers118204091
MSV3drs118204091
GWAS Ctlgrs118204091
Max Magnitude0
OMIM609751
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204091(A,T;A,T)
Alt rs118204091(A,T;A,T)
Reference rs118204091(G;G)
Significance Pathogenic
Disease Pseudoneonatal adrenoleukodystrophy not provided
Variation info
Gene ACOX1
CLNDBN Pseudoneonatal adrenoleukodystrophy not provided
Reversed 1
HGVS NC_000017.10:g.73953546C>A; NC_000017.10:g.73953546C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001565.2, RCV000224694.1,