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rs398123102

From SNPedia

Orientationplus
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 38.1/141
ChromosomeX
Position153740156
GeneABCD1
is asnp
is mentioned by
dbSNPrs398123102
dbSNP (classic)rs398123102
ClinGenrs398123102
ebirs398123102
HLIrs398123102
Exacrs398123102
Gnomadrs398123102
Varsomers398123102
LitVarrs398123102
Maprs398123102
PheGenIrs398123102
Biobankrs398123102
1000 genomesrs398123102
hgdprs398123102
ensemblrs398123102
geneviewrs398123102
scholarrs398123102
googlers398123102
pharmgkbrs398123102
gwascentralrs398123102
openSNPrs398123102
23andMers398123102
SNPshotrs398123102
SNPdbers398123102
MSV3drs398123102
GWAS Ctlgrs398123102
Max Magnitude7.7
ClinVar
Risk Rs398123102(A;A)
Alt Rs398123102(A;A)
Reference Rs398123102(G;G)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153005610G>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000077955.4,