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rs1131691743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;C) 4.4 Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(C;C) 0 common/normal
(C;T) 4.4 Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(T;T) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
ReferenceGRCh38.p7 38.3/151
ChromosomeX
Position153726027
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs1131691743
dbSNP (classic)rs1131691743
ClinGenrs1131691743
ebirs1131691743
HLIrs1131691743
Exacrs1131691743
Gnomadrs1131691743
Varsomers1131691743
LitVarrs1131691743
Maprs1131691743
PheGenIrs1131691743
Biobankrs1131691743
1000 genomesrs1131691743
hgdprs1131691743
ensemblrs1131691743
geneviewrs1131691743
scholarrs1131691743
googlers1131691743
pharmgkbrs1131691743
gwascentralrs1131691743
openSNPrs1131691743
23andMers1131691743
23andMe allrs1131691743
SNPshotrs1131691743
SNPdbers1131691743
MSV3drs1131691743
GWAS Ctlgrs1131691743
Max Magnitude7.7

aka c.761C>T (p.Thr254Met) and c.761C>A (p.Thr254Lys), both of which are pathogenic for adrenoleukodystrophy according to the ALD Mutation Database