rs727503786

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

153736231

Gene

ABCD1

is a	snp
is	mentioned by
dbSNP	rs727503786
dbSNP (classic)	rs727503786
ClinGen	rs727503786
ebi	rs727503786
HLI	rs727503786
Exac	rs727503786
Gnomad	rs727503786
Varsome	rs727503786
LitVar	rs727503786
Map	rs727503786
PheGenI	rs727503786
Biobank	rs727503786
1000 genomes	rs727503786
hgdp	rs727503786
ensembl	rs727503786
geneview	rs727503786
scholar	rs727503786
google	rs727503786
pharmgkb	rs727503786
gwascentral	rs727503786
openSNP	rs727503786
23andMe	rs727503786
SNPshot	rs727503786
SNPdbe	rs727503786
MSV3d	rs727503786
GWAS Ctlg	rs727503786

Max Magnitude

7.7

ClinVar
Risk	rs727503786(A;A) Rs727503786(G;G)
Alt	rs727503786(A;A) Rs727503786(G;G)
Reference	Rs727503786(C;C)
Significance	Probable-Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.153001685C>G
CLNSRC	HGMD
CLNACC	RCV000152719.3,