rs11146842

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

153743056

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs11146842
dbSNP (classic)	rs11146842
ClinGen	rs11146842
ebi	rs11146842
HLI	rs11146842
Exac	rs11146842
Gnomad	rs11146842
Varsome	rs11146842
LitVar	rs11146842
Map	rs11146842
PheGenI	rs11146842
Biobank	rs11146842
1000 genomes	rs11146842
hgdp	rs11146842
ensembl	rs11146842
geneview	rs11146842
scholar	rs11146842
google	rs11146842
pharmgkb	rs11146842
gwascentral	rs11146842
openSNP	rs11146842
23andMe	rs11146842
SNPshot	rs11146842
SNPdbe	rs11146842
MSV3d	rs11146842
GWAS Ctlg	rs11146842

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0021
Related	also

ClinVar
Risk	Rs11146842(A;A)
Alt	Rs11146842(A;A)
Reference	Rs11146842(G;G)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153008510G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012064.19,