rs398123107

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7.7	X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;G)	4.4	Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

153743008

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs398123107
dbSNP (classic)	rs398123107
ClinGen	rs398123107
ebi	rs398123107
HLI	rs398123107
Exac	rs398123107
Gnomad	rs398123107
Varsome	rs398123107
LitVar	rs398123107
Map	rs398123107
PheGenI	rs398123107
Biobank	rs398123107
1000 genomes	rs398123107
hgdp	rs398123107
ensembl	rs398123107
geneview	rs398123107
scholar	rs398123107
google	rs398123107
pharmgkb	rs398123107
gwascentral	rs398123107
openSNP	rs398123107
23andMe	rs398123107
SNPshot	rs398123107
SNPdbe	rs398123107
MSV3d	rs398123107
GWAS Ctlg	rs398123107

Max Magnitude

7.7

ClinVar
Risk	Rs398123107(A;A)
Alt	Rs398123107(A;A)
Reference	Rs398123107(G;G)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153008462G>A
CLNSRC	HGMD
CLNACC	RCV000077960.4,