rs128624223

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;T)	4.4	Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(T;T)	7.7	X-linked adrenoleukodystrophy; symptoms and age of onset highly variable

Reference

GRCh38 38.1/141

Chromosome

X

Position

153740147

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs128624223
dbSNP (classic)	rs128624223
ClinGen	rs128624223
ebi	rs128624223
HLI	rs128624223
Exac	rs128624223
Gnomad	rs128624223
Varsome	rs128624223
LitVar	rs128624223
Map	rs128624223
PheGenI	rs128624223
Biobank	rs128624223
1000 genomes	rs128624223
hgdp	rs128624223
ensembl	rs128624223
geneview	rs128624223
scholar	rs128624223
google	rs128624223
pharmgkb	rs128624223
gwascentral	rs128624223
openSNP	rs128624223
23andMe	rs128624223
SNPshot	rs128624223
SNPdbe	rs128624223
MSV3d	rs128624223
GWAS Ctlg	rs128624223

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs128624223(T;T)
Alt	Rs128624223(T;T)
Reference	Rs128624223(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153005601C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012057.2,