rs398123103

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7.7	Possible miscall by Ancestry; otherwise: X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;G)	4.4	Possible miscall by Ancestry; otherwise: Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

153740189

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs398123103
dbSNP (classic)	rs398123103
ClinGen	rs398123103
ebi	rs398123103
HLI	rs398123103
Exac	rs398123103
Gnomad	rs398123103
Varsome	rs398123103
LitVar	rs398123103
Map	rs398123103
PheGenI	rs398123103
Biobank	rs398123103
1000 genomes	rs398123103
hgdp	rs398123103
ensembl	rs398123103
geneview	rs398123103
scholar	rs398123103
google	rs398123103
pharmgkb	rs398123103
gwascentral	rs398123103
openSNP	rs398123103
23andMe	rs398123103
SNPshot	rs398123103
SNPdbe	rs398123103
MSV3d	rs398123103
GWAS Ctlg	rs398123103

Max Magnitude

7.7

aka c.1586G>A (p.Gly529Asp)

ClinVar
Risk	Rs398123103(A;A)
Alt	Rs398123103(A;A)
Reference	Rs398123103(G;G)
Significance	Probable-Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153005643G>A
CLNSRC	HGMD
CLNACC	RCV000077956.4,