rs193922094

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153740195

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs193922094
dbSNP (classic)	rs193922094
ClinGen	rs193922094
ebi	rs193922094
HLI	rs193922094
Exac	rs193922094
Gnomad	rs193922094
Varsome	rs193922094
LitVar	rs193922094
Map	rs193922094
PheGenI	rs193922094
Biobank	rs193922094
1000 genomes	rs193922094
hgdp	rs193922094
ensembl	rs193922094
geneview	rs193922094
scholar	rs193922094
google	rs193922094
pharmgkb	rs193922094
gwascentral	rs193922094
openSNP	rs193922094
23andMe	rs193922094
SNPshot	rs193922094
SNPdbe	rs193922094
MSV3d	rs193922094
GWAS Ctlg	rs193922094

Max Magnitude

7.7

aka c.1592T>C (p.Leu531Pro)

Reported in ClinVar as pathogenic for adrenoleukodystrophy (ALD); however, this mutation is not listed in the ALD Mutation Database

ClinVar
Risk	Rs193922094(C;C)
Alt	Rs193922094(C;C)
Reference	Rs193922094(T;T)
Significance	Probable-Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153005649T>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029285.1,