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rs398123106

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 38.1/141
ChromosomeX
Position153740710
GeneABCD1
is asnp
is mentioned by
dbSNPrs398123106
dbSNP (classic)rs398123106
ClinGenrs398123106
ebirs398123106
HLIrs398123106
Exacrs398123106
Gnomadrs398123106
Varsomers398123106
LitVarrs398123106
Maprs398123106
PheGenIrs398123106
Biobankrs398123106
1000 genomesrs398123106
hgdprs398123106
ensemblrs398123106
geneviewrs398123106
scholarrs398123106
googlers398123106
pharmgkbrs398123106
gwascentralrs398123106
openSNPrs398123106
23andMers398123106
23andMe allrs398123106
SNPshotrs398123106
SNPdbers398123106
MSV3drs398123106
GWAS Ctlgrs398123106
Max Magnitude7.7
ClinVar
Risk Rs398123106(T;T)
Alt Rs398123106(T;T)
Reference Rs398123106(C;C)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153006164C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000077959.4,