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rs387906495

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(-;C) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position153740155
GeneABCD1
is asnp
is mentioned by
dbSNPrs387906495
dbSNP (old)rs387906495
ClinGenrs387906495
ebirs387906495
HLIrs387906495
Exacrs387906495
Gnomadrs387906495
Varsomers387906495
Maprs387906495
PheGenIrs387906495
Biobankrs387906495
1000 genomesrs387906495
hgdprs387906495
ensemblrs387906495
gopubmedrs387906495
geneviewrs387906495
scholarrs387906495
googlers387906495
pharmgkbrs387906495
gwascentralrs387906495
openSNPrs387906495
23andMers387906495
23andMe allrs387906495
SNPshotrs387906495
SNPdbers387906495
MSV3drs387906495
GWAS Ctlgrs387906495
Max Magnitude7.7
ClinVar
Risk Rs387906495(-;-)
Alt Rs387906495(-;-)
Reference Rs387906495(C;C)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153005609delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012058.2,