rs128624214

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153737214

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624214
dbSNP (classic)	rs128624214
ClinGen	rs128624214
ebi	rs128624214
HLI	rs128624214
Exac	rs128624214
Gnomad	rs128624214
Varsome	rs128624214
LitVar	rs128624214
Map	rs128624214
PheGenI	rs128624214
Biobank	rs128624214
1000 genomes	rs128624214
hgdp	rs128624214
ensembl	rs128624214
geneview	rs128624214
scholar	rs128624214
google	rs128624214
pharmgkb	rs128624214
gwascentral	rs128624214
openSNP	rs128624214
23andMe	rs128624214
SNPshot	rs128624214
SNPdbe	rs128624214
MSV3d	rs128624214
GWAS Ctlg	rs128624214

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs128624214(G;G)
Alt	Rs128624214(G;G)
Reference	Rs128624214(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153002668C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012045.2,