rs128624225

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153743023

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624225
dbSNP (classic)	rs128624225
ClinGen	rs128624225
ebi	rs128624225
HLI	rs128624225
Exac	rs128624225
Gnomad	rs128624225
Varsome	rs128624225
LitVar	rs128624225
Map	rs128624225
PheGenI	rs128624225
Biobank	rs128624225
1000 genomes	rs128624225
hgdp	rs128624225
ensembl	rs128624225
geneview	rs128624225
scholar	rs128624225
google	rs128624225
pharmgkb	rs128624225
gwascentral	rs128624225
openSNP	rs128624225
23andMe	rs128624225
SNPshot	rs128624225
SNPdbe	rs128624225
MSV3d	rs128624225
GWAS Ctlg	rs128624225

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0019
Related	also

ClinVar
Risk	Rs128624225(T;T)
Alt	Rs128624225(T;T)
Reference	Rs128624225(C;C)
Significance	Pathogenic
Disease	Addison's disease Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Addison's disease Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153008477C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012062.17, RCV000180094.1,