rs128624221

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

153736510

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624221
dbSNP (classic)	rs128624221
ClinGen	rs128624221
ebi	rs128624221
HLI	rs128624221
Exac	rs128624221
Gnomad	rs128624221
Varsome	rs128624221
LitVar	rs128624221
Map	rs128624221
PheGenI	rs128624221
Biobank	rs128624221
1000 genomes	rs128624221
hgdp	rs128624221
ensembl	rs128624221
geneview	rs128624221
scholar	rs128624221
google	rs128624221
pharmgkb	rs128624221
gwascentral	rs128624221
openSNP	rs128624221
23andMe	rs128624221
SNPshot	rs128624221
SNPdbe	rs128624221
MSV3d	rs128624221
GWAS Ctlg	rs128624221

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs128624221(T;T)
Alt	Rs128624221(T;T)
Reference	Rs128624221(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153001964C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012054.2,