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rs118204092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118204092(A;G)
Make rs118204092(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75953469
GeneACOX1
is asnp
is mentioned by
dbSNPrs118204092
ebirs118204092
HLIrs118204092
Exacrs118204092
Varsomers118204092
Maprs118204092
PheGenIrs118204092
hapmaprs118204092
1000 genomesrs118204092
hgdprs118204092
ensemblrs118204092
gopubmedrs118204092
geneviewrs118204092
scholarrs118204092
googlers118204092
pharmgkbrs118204092
gwascentralrs118204092
openSNPrs118204092
23andMers118204092
23andMe allrs118204092
SNP Nexus

SNPshotrs118204092
SNPdbers118204092
MSV3drs118204092
GWAS Ctlgrs118204092
Max Magnitude0
OMIM609751
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118204092(G;G)
Alt rs118204092(G;G)
Reference rs118204092(A;A)
Significance Pathogenic
Disease Pseudoneonatal adrenoleukodystrophy
Variation info
Gene ACOX1
CLNDBN Pseudoneonatal adrenoleukodystrophy
Reversed 1
HGVS NC_000017.10:g.73949550T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001566.2,