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rs1057516052

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;C) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(C;C) 0 common in clinvar
(C;T) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(T;T) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position153725795
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs1057516052
dbSNP (old)rs1057516052
ClinGenrs1057516052
ebirs1057516052
HLIrs1057516052
Exacrs1057516052
Gnomadrs1057516052
Varsomers1057516052
Maprs1057516052
PheGenIrs1057516052
Biobankrs1057516052
1000 genomesrs1057516052
hgdprs1057516052
ensemblrs1057516052
gopubmedrs1057516052
geneviewrs1057516052
scholarrs1057516052
googlers1057516052
pharmgkbrs1057516052
gwascentralrs1057516052
openSNPrs1057516052
23andMers1057516052
23andMe allrs1057516052
SNPshotrs1057516052
SNPdbers1057516052
MSV3drs1057516052
GWAS Ctlgrs1057516052
Max Magnitude7.7
ClinVar
Risk Rs1057516052(T;T)
Alt Rs1057516052(T;T)
Reference Rs1057516052(C;C)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene BCAP31 ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.152991250C>T
CLNSRC
CLNACC RCV000408645.1,