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rs128624217

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(G;T) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position153725786
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs128624217
dbSNP (old)rs128624217
ClinGenrs128624217
ebirs128624217
HLIrs128624217
Exacrs128624217
Gnomadrs128624217
Varsomers128624217
Maprs128624217
PheGenIrs128624217
Biobankrs128624217
1000 genomesrs128624217
hgdprs128624217
ensemblrs128624217
gopubmedrs128624217
geneviewrs128624217
scholarrs128624217
googlers128624217
pharmgkbrs128624217
gwascentralrs128624217
openSNPrs128624217
23andMers128624217
23andMe allrs128624217
SNP Nexus

SNPshotrs128624217
SNPdbers128624217
MSV3drs128624217
GWAS Ctlgrs128624217
Max Magnitude7.7
OMIM300371
Desc
Variant0007
Relatedalso
ClinVar
Risk Rs128624217(G;G)
Alt Rs128624217(G;G)
Reference Rs128624217(T;T)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene BCAP31 ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.152991241T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012050.11,