rs387906497

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153725249

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs387906497
dbSNP (classic)	rs387906497
ClinGen	rs387906497
ebi	rs387906497
HLI	rs387906497
Exac	rs387906497
Gnomad	rs387906497
Varsome	rs387906497
LitVar	rs387906497
Map	rs387906497
PheGenI	rs387906497
Biobank	rs387906497
1000 genomes	rs387906497
hgdp	rs387906497
ensembl	rs387906497
geneview	rs387906497
scholar	rs387906497
google	rs387906497
pharmgkb	rs387906497
gwascentral	rs387906497
openSNP	rs387906497
23andMe	rs387906497
SNPshot	rs387906497
SNPdbe	rs387906497
MSV3d	rs387906497
GWAS Ctlg	rs387906497

Max Magnitude

7.7

c.-18_8del26 (p.Met1_Gly66del)

ClinVar
Risk	Rs387906497(-;-)
Alt	Rs387906497(-;-)
Reference	Rs387906497(GCAGCCAGCCCAGGTGACATGCCGGT;GCAGCCAGCCCAGGTGACATGCCGGT)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152990704_152990729del26
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012069.2,