rs193922093

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153736486

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs193922093
dbSNP (classic)	rs193922093
ClinGen	rs193922093
ebi	rs193922093
HLI	rs193922093
Exac	rs193922093
Gnomad	rs193922093
Varsome	rs193922093
LitVar	rs193922093
Map	rs193922093
PheGenI	rs193922093
Biobank	rs193922093
1000 genomes	rs193922093
hgdp	rs193922093
ensembl	rs193922093
geneview	rs193922093
scholar	rs193922093
google	rs193922093
pharmgkb	rs193922093
gwascentral	rs193922093
openSNP	rs193922093
23andMe	rs193922093
SNPshot	rs193922093
SNPdbe	rs193922093
MSV3d	rs193922093
GWAS Ctlg	rs193922093

Max Magnitude

7.7

ClinVar
Risk	Rs193922093(C;C)
Alt	Rs193922093(C;C)
Reference	Rs193922093(-;-)
Significance	Probable-Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153001940dupC
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029284.1,