rs1057516052

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7.7	X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;C)	3	Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(C;C)	0	common in clinvar
(C;T)	3	Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(T;T)	7.7	X-linked adrenoleukodystrophy; symptoms and age of onset highly variable

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

153725795

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs1057516052
dbSNP (classic)	rs1057516052
ClinGen	rs1057516052
ebi	rs1057516052
HLI	rs1057516052
Exac	rs1057516052
Gnomad	rs1057516052
Varsome	rs1057516052
LitVar	rs1057516052
Map	rs1057516052
PheGenI	rs1057516052
Biobank	rs1057516052
1000 genomes	rs1057516052
hgdp	rs1057516052
ensembl	rs1057516052
geneview	rs1057516052
scholar	rs1057516052
google	rs1057516052
pharmgkb	rs1057516052
gwascentral	rs1057516052
openSNP	rs1057516052
23andMe	rs1057516052
SNPshot	rs1057516052
SNPdbe	rs1057516052
MSV3d	rs1057516052
GWAS Ctlg	rs1057516052

Max Magnitude

7.7

ClinVar
Risk	Rs1057516052(T;T)
Alt	Rs1057516052(T;T)
Reference	Rs1057516052(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991250C>T
CLNSRC
CLNACC	RCV000408645.1,