rs128624213

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

153726137

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs128624213
dbSNP (classic)	rs128624213
ClinGen	rs128624213
ebi	rs128624213
HLI	rs128624213
Exac	rs128624213
Gnomad	rs128624213
Varsome	rs128624213
LitVar	rs128624213
Map	rs128624213
PheGenI	rs128624213
Biobank	rs128624213
1000 genomes	rs128624213
hgdp	rs128624213
ensembl	rs128624213
geneview	rs128624213
scholar	rs128624213
google	rs128624213
pharmgkb	rs128624213
gwascentral	rs128624213
openSNP	rs128624213
23andMe	rs128624213
SNPshot	rs128624213
SNPdbe	rs128624213
MSV3d	rs128624213
GWAS Ctlg	rs128624213

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs128624213(A;A)
Alt	Rs128624213(A;A)
Reference	Rs128624213(G;G)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991592G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012044.2,