rs387906495

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153740155

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs387906495
dbSNP (classic)	rs387906495
ClinGen	rs387906495
ebi	rs387906495
HLI	rs387906495
Exac	rs387906495
Gnomad	rs387906495
Varsome	rs387906495
LitVar	rs387906495
Map	rs387906495
PheGenI	rs387906495
Biobank	rs387906495
1000 genomes	rs387906495
hgdp	rs387906495
ensembl	rs387906495
geneview	rs387906495
scholar	rs387906495
google	rs387906495
pharmgkb	rs387906495
gwascentral	rs387906495
openSNP	rs387906495
23andMe	rs387906495
SNPshot	rs387906495
SNPdbe	rs387906495
MSV3d	rs387906495
GWAS Ctlg	rs387906495

Max Magnitude

7.7

ClinVar
Risk	Rs387906495(-;-)
Alt	Rs387906495(-;-)
Reference	Rs387906495(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153005609delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012058.2,