rs128624220

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

153736372

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624220
dbSNP (classic)	rs128624220
ClinGen	rs128624220
ebi	rs128624220
HLI	rs128624220
Exac	rs128624220
Gnomad	rs128624220
Varsome	rs128624220
LitVar	rs128624220
Map	rs128624220
PheGenI	rs128624220
Biobank	rs128624220
1000 genomes	rs128624220
hgdp	rs128624220
ensembl	rs128624220
geneview	rs128624220
scholar	rs128624220
google	rs128624220
pharmgkb	rs128624220
gwascentral	rs128624220
openSNP	rs128624220
23andMe	rs128624220
SNPshot	rs128624220
SNPdbe	rs128624220
MSV3d	rs128624220
GWAS Ctlg	rs128624220

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs128624220(T;T)
Alt	Rs128624220(T;T)
Reference	Rs128624220(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153001826C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012053.2,