rs128624219

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153736232

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624219
dbSNP (classic)	rs128624219
ClinGen	rs128624219
ebi	rs128624219
HLI	rs128624219
Exac	rs128624219
Gnomad	rs128624219
Varsome	rs128624219
LitVar	rs128624219
Map	rs128624219
PheGenI	rs128624219
Biobank	rs128624219
1000 genomes	rs128624219
hgdp	rs128624219
ensembl	rs128624219
geneview	rs128624219
scholar	rs128624219
google	rs128624219
pharmgkb	rs128624219
gwascentral	rs128624219
openSNP	rs128624219
23andMe	rs128624219
SNPshot	rs128624219
SNPdbe	rs128624219
MSV3d	rs128624219
GWAS Ctlg	rs128624219

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs128624219(A;A)
Alt	Rs128624219(A;A)
Reference	Rs128624219(G;G)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153001686G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012052.11,