rs398123106

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

153740710

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs398123106
dbSNP (classic)	rs398123106
ClinGen	rs398123106
ebi	rs398123106
HLI	rs398123106
Exac	rs398123106
Gnomad	rs398123106
Varsome	rs398123106
LitVar	rs398123106
Map	rs398123106
PheGenI	rs398123106
Biobank	rs398123106
1000 genomes	rs398123106
hgdp	rs398123106
ensembl	rs398123106
geneview	rs398123106
scholar	rs398123106
google	rs398123106
pharmgkb	rs398123106
gwascentral	rs398123106
openSNP	rs398123106
23andMe	rs398123106
SNPshot	rs398123106
SNPdbe	rs398123106
MSV3d	rs398123106
GWAS Ctlg	rs398123106

Max Magnitude

7.7

ClinVar
Risk	Rs398123106(T;T)
Alt	Rs398123106(T;T)
Reference	Rs398123106(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153006164C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000077959.4,