rs398123105

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

153740618

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs398123105
dbSNP (classic)	rs398123105
ClinGen	rs398123105
ebi	rs398123105
HLI	rs398123105
Exac	rs398123105
Gnomad	rs398123105
Varsome	rs398123105
LitVar	rs398123105
Map	rs398123105
PheGenI	rs398123105
Biobank	rs398123105
1000 genomes	rs398123105
hgdp	rs398123105
ensembl	rs398123105
geneview	rs398123105
scholar	rs398123105
google	rs398123105
pharmgkb	rs398123105
gwascentral	rs398123105
openSNP	rs398123105
23andMe	rs398123105
SNPshot	rs398123105
SNPdbe	rs398123105
MSV3d	rs398123105
GWAS Ctlg	rs398123105

Max Magnitude

7.7

ClinVar
Risk	Rs398123105(T;T)
Alt	Rs398123105(T;T)
Reference	Rs398123105(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153006072C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000077958.4,