rs4010613

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153743055

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs4010613
dbSNP (classic)	rs4010613
ClinGen	rs4010613
ebi	rs4010613
HLI	rs4010613
Exac	rs4010613
Gnomad	rs4010613
Varsome	rs4010613
LitVar	rs4010613
Map	rs4010613
PheGenI	rs4010613
Biobank	rs4010613
1000 genomes	rs4010613
hgdp	rs4010613
ensembl	rs4010613
geneview	rs4010613
scholar	rs4010613
google	rs4010613
pharmgkb	rs4010613
gwascentral	rs4010613
openSNP	rs4010613
23andMe	rs4010613
SNPshot	rs4010613
SNPdbe	rs4010613
MSV3d	rs4010613
GWAS Ctlg	rs4010613

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0022
Related	also

dbSNP says the gene is ABCD1 on chromosome X.

nextbio and jlickbot think it's ABCD1P4 on chr 22.

the position given is probably not correct for chrom 22 16870930, since that appears to be in the centromere.

ClinVar
Risk	Rs4010613(T;T)
Alt	Rs4010613(T;T)
Reference	Rs4010613(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153008509C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012065.2,