rs387906494

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153737178

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs387906494
dbSNP (classic)	rs387906494
ClinGen	rs387906494
ebi	rs387906494
HLI	rs387906494
Exac	rs387906494
Gnomad	rs387906494
Varsome	rs387906494
LitVar	rs387906494
Map	rs387906494
PheGenI	rs387906494
Biobank	rs387906494
1000 genomes	rs387906494
hgdp	rs387906494
ensembl	rs387906494
geneview	rs387906494
scholar	rs387906494
google	rs387906494
pharmgkb	rs387906494
gwascentral	rs387906494
openSNP	rs387906494
23andMe	rs387906494
SNPshot	rs387906494
SNPdbe	rs387906494
MSV3d	rs387906494
GWAS Ctlg	rs387906494

Max Magnitude

7.7

c.1415_1416delAG (p.Gln472Argfs)

ClinVar
Risk	Rs387906494(-;-)
Alt	Rs387906494(-;-)
Reference	Rs387906494(AG;AG)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153002632_153002633delAG
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000012055.20,