rs398123100

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

153737159

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs398123100
dbSNP (classic)	rs398123100
ClinGen	rs398123100
ebi	rs398123100
HLI	rs398123100
Exac	rs398123100
Gnomad	rs398123100
Varsome	rs398123100
LitVar	rs398123100
Map	rs398123100
PheGenI	rs398123100
Biobank	rs398123100
1000 genomes	rs398123100
hgdp	rs398123100
ensembl	rs398123100
geneview	rs398123100
scholar	rs398123100
google	rs398123100
pharmgkb	rs398123100
gwascentral	rs398123100
openSNP	rs398123100
23andMe	rs398123100
SNPshot	rs398123100
SNPdbe	rs398123100
MSV3d	rs398123100
GWAS Ctlg	rs398123100

Max Magnitude

7.7

ClinVar
Risk	Rs398123100(T;T)
Alt	Rs398123100(T;T)
Reference	Rs398123100(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153002613C>T
CLNSRC	HGMD
CLNACC	RCV000077950.4,