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rs797044726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(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.p2 38.2/147
ChromosomeX
Position153736408
GeneABCD1
is asnp
is mentioned by
dbSNPrs797044726
dbSNP (classic)rs797044726
ClinGenrs797044726
ebirs797044726
HLIrs797044726
Exacrs797044726
Gnomadrs797044726
Varsomers797044726
LitVarrs797044726
Maprs797044726
PheGenIrs797044726
Biobankrs797044726
1000 genomesrs797044726
hgdprs797044726
ensemblrs797044726
geneviewrs797044726
scholarrs797044726
googlers797044726
pharmgkbrs797044726
gwascentralrs797044726
openSNPrs797044726
23andMers797044726
SNPshotrs797044726
SNPdbers797044726
MSV3drs797044726
GWAS Ctlgrs797044726
Max Magnitude7.7
ClinVar
Risk Rs797044726(T;T)
Alt Rs797044726(T;T)
Reference Rs797044726(C;C)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153001862C>T
CLNSRC
CLNACC RCV000178024.1,