Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;G) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(C;C) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(C;G) 3 Carrier of X-linked adrenoleukodystrophy mutation; probably unaffected
(G;G) 0 common in clinvar
(G;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
Position153725754
GeneABCD1, BCAP31
is asnp
is mentioned by
dbSNPrs1057517954
dbSNP (old)rs1057517954
ClinGenrs1057517954
ebirs1057517954
HLIrs1057517954
Exacrs1057517954
Gnomadrs1057517954
Varsomers1057517954
Maprs1057517954
PheGenIrs1057517954
Biobankrs1057517954
1000 genomesrs1057517954
hgdprs1057517954
ensemblrs1057517954
gopubmedrs1057517954
geneviewrs1057517954
scholarrs1057517954
googlers1057517954
pharmgkbrs1057517954
gwascentralrs1057517954
openSNPrs1057517954
23andMers1057517954
23andMe allrs1057517954
SNPshotrs1057517954
SNPdbers1057517954
MSV3drs1057517954
GWAS Ctlgrs1057517954
Max Magnitude7.7
ClinVar
Risk Rs1057517954(A;A)
Alt Rs1057517954(A;A)
Reference Rs1057517954(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene BCAP31 ABCD1
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.152991209G>A
CLNSRC
CLNACC RCV000414525.1,