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rs398123103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7.7 Possible miscall by Ancestry; otherwise: X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;G) 4.4 Possible miscall by Ancestry; otherwise: Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position153740189
GeneABCD1
is asnp
is mentioned by
dbSNPrs398123103
dbSNP (classic)rs398123103
ClinGenrs398123103
ebirs398123103
HLIrs398123103
Exacrs398123103
Gnomadrs398123103
Varsomers398123103
LitVarrs398123103
Maprs398123103
PheGenIrs398123103
Biobankrs398123103
1000 genomesrs398123103
hgdprs398123103
ensemblrs398123103
geneviewrs398123103
scholarrs398123103
googlers398123103
pharmgkbrs398123103
gwascentralrs398123103
openSNPrs398123103
23andMers398123103
23andMe allrs398123103
SNPshotrs398123103
SNPdbers398123103
MSV3drs398123103
GWAS Ctlgrs398123103
Max Magnitude7.7

aka c.1586G>A (p.Gly529Asp)


ClinVar
Risk Rs398123103(A;A)
Alt Rs398123103(A;A)
Reference Rs398123103(G;G)
Significance Probable-Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153005643G>A
CLNSRC HGMD
CLNACC RCV000077956.4,