rs128624222

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;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

153737192

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624222
dbSNP (classic)	rs128624222
ClinGen	rs128624222
ebi	rs128624222
HLI	rs128624222
Exac	rs128624222
Gnomad	rs128624222
Varsome	rs128624222
LitVar	rs128624222
Map	rs128624222
PheGenI	rs128624222
Biobank	rs128624222
1000 genomes	rs128624222
hgdp	rs128624222
ensembl	rs128624222
geneview	rs128624222
scholar	rs128624222
google	rs128624222
pharmgkb	rs128624222
gwascentral	rs128624222
openSNP	rs128624222
23andMe	rs128624222
SNPshot	rs128624222
SNPdbe	rs128624222
MSV3d	rs128624222
GWAS Ctlg	rs128624222

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0013
Related	also

ClinVar
Risk	rs128624222(A;A) Rs128624222(T;T)
Alt	rs128624222(A;A) Rs128624222(T;T)
Reference	Rs128624222(G;G)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153002646G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012056.17,