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rs128624215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(C;T) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(G;G) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(T;T) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
ReferenceGRCh38 38.1/141
ChromosomeX
Position153736195
GeneABCD1
is asnp
is mentioned by
dbSNPrs128624215
dbSNP (old)rs128624215
ClinGenrs128624215
ebirs128624215
HLIrs128624215
Exacrs128624215
Gnomadrs128624215
Varsomers128624215
Maprs128624215
PheGenIrs128624215
Biobankrs128624215
1000 genomesrs128624215
hgdprs128624215
ensemblrs128624215
gopubmedrs128624215
geneviewrs128624215
scholarrs128624215
googlers128624215
pharmgkbrs128624215
gwascentralrs128624215
openSNPrs128624215
23andMers128624215
23andMe allrs128624215
SNPshotrs128624215
SNPdbers128624215
MSV3drs128624215
GWAS Ctlgrs128624215
Max Magnitude7.7
OMIM300371
Desc
Variant0005
Relatedalso
ClinVar
Risk Rs128624215(G;G) Rs128624215(T;T)
Alt Rs128624215(G;G) Rs128624215(T;T)
Reference Rs128624215(C;C)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153001649C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012048.17,