rs118204091

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs118204091(G;T)

Make rs118204091(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75957465

Gene

ACOX1

is a	snp
is	mentioned by
dbSNP	rs118204091
dbSNP (classic)	rs118204091
ClinGen	rs118204091
ebi	rs118204091
HLI	rs118204091
Exac	rs118204091
Gnomad	rs118204091
Varsome	rs118204091
LitVar	rs118204091
Map	rs118204091
PheGenI	rs118204091
Biobank	rs118204091
1000 genomes	rs118204091
hgdp	rs118204091
ensembl	rs118204091
geneview	rs118204091
scholar	rs118204091
google	rs118204091
pharmgkb	rs118204091
gwascentral	rs118204091
openSNP	rs118204091
23andMe	rs118204091
SNPshot	rs118204091
SNPdbe	rs118204091
MSV3d	rs118204091
GWAS Ctlg	rs118204091

Max Magnitude

0

OMIM	609751
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118204091(A;A) rs118204091(T;T)
Alt	rs118204091(A;A) rs118204091(T;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 UniProtKB (protein)
CLNACC	RCV000001565.2, RCV000224694.1,