rs128624224

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

153740155

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624224
dbSNP (classic)	rs128624224
ClinGen	rs128624224
ebi	rs128624224
HLI	rs128624224
Exac	rs128624224
Gnomad	rs128624224
Varsome	rs128624224
LitVar	rs128624224
Map	rs128624224
PheGenI	rs128624224
Biobank	rs128624224
1000 genomes	rs128624224
hgdp	rs128624224
ensembl	rs128624224
geneview	rs128624224
scholar	rs128624224
google	rs128624224
pharmgkb	rs128624224
gwascentral	rs128624224
openSNP	rs128624224
23andMe	rs128624224
SNPshot	rs128624224
SNPdbe	rs128624224
MSV3d	rs128624224
GWAS Ctlg	rs128624224

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0016
Related	also

ClinVar
Risk	Rs128624224(T;T)
Alt	Rs128624224(T;T)
Reference	Rs128624224(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153005609C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012059.13,