rs398123104

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7.7	X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;C)	4.4	Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

153740599

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs398123104
dbSNP (classic)	rs398123104
ClinGen	rs398123104
ebi	rs398123104
HLI	rs398123104
Exac	rs398123104
Gnomad	rs398123104
Varsome	rs398123104
LitVar	rs398123104
Map	rs398123104
PheGenI	rs398123104
Biobank	rs398123104
1000 genomes	rs398123104
hgdp	rs398123104
ensembl	rs398123104
geneview	rs398123104
scholar	rs398123104
google	rs398123104
pharmgkb	rs398123104
gwascentral	rs398123104
openSNP	rs398123104
23andMe	rs398123104
SNPshot	rs398123104
SNPdbe	rs398123104
MSV3d	rs398123104
GWAS Ctlg	rs398123104

Max Magnitude

7.7

aka c.1660C>A (p.Arg554Ser)

Reported in ClinVar as pathogenic for adrenoleukodystrophy (ALD); however, this variant is not listed in the ALD Mutation Database

ClinVar
Risk	Rs398123104(A;A) rs398123104(T;T)
Alt	Rs398123104(A;A) rs398123104(T;T)
Reference	Rs398123104(C;C)
Significance	Probable-Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153006053C>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000077957.5,