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rs201568579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(A;G) 4.4 Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position153740600
GeneABCD1
is asnp
is mentioned by
dbSNPrs201568579
dbSNP (classic)rs201568579
ClinGenrs201568579
ebirs201568579
HLIrs201568579
Exacrs201568579
Gnomadrs201568579
Varsomers201568579
LitVarrs201568579
Maprs201568579
PheGenIrs201568579
Biobankrs201568579
1000 genomesrs201568579
hgdprs201568579
ensemblrs201568579
geneviewrs201568579
scholarrs201568579
googlers201568579
pharmgkbrs201568579
gwascentralrs201568579
openSNPrs201568579
23andMers201568579
SNPshotrs201568579
SNPdbers201568579
MSV3drs201568579
GWAS Ctlgrs201568579
Max Magnitude7.7
ClinVar
Risk Rs201568579(A;A)
Alt Rs201568579(A;A)
Reference Rs201568579(G;G)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153006054G>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000152720.3,