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rs118204090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118204090(A;G)
Make rs118204090(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75953563
GeneACOX1
is asnp
is mentioned by
dbSNPrs118204090
ebirs118204090
HLIrs118204090
Exacrs118204090
Varsomers118204090
Maprs118204090
PheGenIrs118204090
hapmaprs118204090
1000 genomesrs118204090
hgdprs118204090
ensemblrs118204090
gopubmedrs118204090
geneviewrs118204090
scholarrs118204090
googlers118204090
pharmgkbrs118204090
gwascentralrs118204090
openSNPrs118204090
23andMers118204090
23andMe allrs118204090
SNP Nexus

SNPshotrs118204090
SNPdbers118204090
MSV3drs118204090
GWAS Ctlgrs118204090
Max Magnitude0
OMIM609751
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204090(G;G)
Alt rs118204090(G;G)
Reference Rs118204090(A;A)
Significance Pathogenic
Disease Pseudoneonatal adrenoleukodystrophy
Variation info
Gene ACOX1
CLNDBN Pseudoneonatal adrenoleukodystrophy
Reversed 1
HGVS NC_000017.10:g.73949644T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001564.2,