rs128624218

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153726062

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs128624218
dbSNP (classic)	rs128624218
ClinGen	rs128624218
ebi	rs128624218
HLI	rs128624218
Exac	rs128624218
Gnomad	rs128624218
Varsome	rs128624218
LitVar	rs128624218
Map	rs128624218
PheGenI	rs128624218
Biobank	rs128624218
1000 genomes	rs128624218
hgdp	rs128624218
ensembl	rs128624218
geneview	rs128624218
scholar	rs128624218
google	rs128624218
pharmgkb	rs128624218
gwascentral	rs128624218
openSNP	rs128624218
23andMe	rs128624218
SNPshot	rs128624218
SNPdbe	rs128624218
MSV3d	rs128624218
GWAS Ctlg	rs128624218

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs128624218(A;A)
Alt	Rs128624218(A;A)
Reference	Rs128624218(G;G)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991517G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012051.17,