rs128624217

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153725786

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs128624217
dbSNP (classic)	rs128624217
ClinGen	rs128624217
ebi	rs128624217
HLI	rs128624217
Exac	rs128624217
Gnomad	rs128624217
Varsome	rs128624217
LitVar	rs128624217
Map	rs128624217
PheGenI	rs128624217
Biobank	rs128624217
1000 genomes	rs128624217
hgdp	rs128624217
ensembl	rs128624217
geneview	rs128624217
scholar	rs128624217
google	rs128624217
pharmgkb	rs128624217
gwascentral	rs128624217
openSNP	rs128624217
23andMe	rs128624217
SNPshot	rs128624217
SNPdbe	rs128624217
MSV3d	rs128624217
GWAS Ctlg	rs128624217

Max Magnitude

7.7

OMIM	300371
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs128624217(G;G)
Alt	Rs128624217(G;G)
Reference	Rs128624217(T;T)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991241T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012050.11,