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rs150346282

From SNPedia

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Stabilizedplus
Geno Mag Summary
(A;A) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;G) 4.4 Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153743031
GeneABCD1
is asnp
is mentioned by
dbSNPrs150346282
dbSNP (classic)rs150346282
ClinGenrs150346282
ebirs150346282
HLIrs150346282
Exacrs150346282
Gnomadrs150346282
Varsomers150346282
LitVarrs150346282
Maprs150346282
PheGenIrs150346282
Biobankrs150346282
1000 genomesrs150346282
hgdprs150346282
ensemblrs150346282
geneviewrs150346282
scholarrs150346282
googlers150346282
pharmgkbrs150346282
gwascentralrs150346282
openSNPrs150346282
23andMers150346282
SNPshotrs150346282
SNPdbers150346282
MSV3drs150346282
GWAS Ctlgrs150346282
Max Magnitude7.7
ClinVar
Risk Rs150346282(A;A)
Alt Rs150346282(A;A)
Reference Rs150346282(G;G)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153008485G>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000152721.3,