rs128624215

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
(C;T)	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
(T;T)	7.7	X-linked adrenoleukodystrophy; symptoms and age of onset highly variable

Reference

GRCh38 38.1/141

Chromosome

X

Position

153736195

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624215
dbSNP (classic)	rs128624215
ClinGen	rs128624215
ebi	rs128624215
HLI	rs128624215
Exac	rs128624215
Gnomad	rs128624215
Varsome	rs128624215
LitVar	rs128624215
Map	rs128624215
PheGenI	rs128624215
Biobank	rs128624215
1000 genomes	rs128624215
hgdp	rs128624215
ensembl	rs128624215
geneview	rs128624215
scholar	rs128624215
google	rs128624215
pharmgkb	rs128624215
gwascentral	rs128624215
openSNP	rs128624215
23andMe	rs128624215
SNPshot	rs128624215
SNPdbe	rs128624215
MSV3d	rs128624215
GWAS Ctlg	rs128624215

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs128624215(G;G) Rs128624215(T;T)
Alt	Rs128624215(G;G) Rs128624215(T;T)
Reference	Rs128624215(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153001649C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012048.17,