rs797044611

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

153726152

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs797044611
dbSNP (classic)	rs797044611
ClinGen	rs797044611
ebi	rs797044611
HLI	rs797044611
Exac	rs797044611
Gnomad	rs797044611
Varsome	rs797044611
LitVar	rs797044611
Map	rs797044611
PheGenI	rs797044611
Biobank	rs797044611
1000 genomes	rs797044611
hgdp	rs797044611
ensembl	rs797044611
geneview	rs797044611
scholar	rs797044611
google	rs797044611
pharmgkb	rs797044611
gwascentral	rs797044611
openSNP	rs797044611
23andMe	rs797044611
SNPshot	rs797044611
SNPdbe	rs797044611
MSV3d	rs797044611
GWAS Ctlg	rs797044611

Max Magnitude

7.7

aka c.886T>C (p.Tyr296His)

ClinVar
Risk	Rs797044611(C;C)
Alt	Rs797044611(C;C)
Reference	Rs797044611(T;T)
Significance	Probable-Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991607T>C
CLNSRC
CLNACC	RCV000173053.1,