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rs797044625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(-;AC) 4.4 Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(AC;AC) 0 common/normal
(CA;CA) 0 common in clinvar
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153743503
GeneABCD1
is asnp
is mentioned by
dbSNPrs797044625
dbSNP (classic)rs797044625
ClinGenrs797044625
ebirs797044625
HLIrs797044625
Exacrs797044625
Gnomadrs797044625
Varsomers797044625
LitVarrs797044625
Maprs797044625
PheGenIrs797044625
Biobankrs797044625
1000 genomesrs797044625
hgdprs797044625
ensemblrs797044625
geneviewrs797044625
scholarrs797044625
googlers797044625
pharmgkbrs797044625
gwascentralrs797044625
openSNPrs797044625
23andMers797044625
SNPshotrs797044625
SNPdbers797044625
MSV3drs797044625
GWAS Ctlgrs797044625
Max Magnitude7.7

c.2006_2007delAC (p.His669Leufs)

Reported in ClinVar as likely to be pathogenic for adrenoleukodystrophy (ALD); note that mutation is not listed in the ALD Mutation Database

ClinVar
Risk Rs797044625(-;-)
Alt Rs797044625(-;-)
Reference Rs797044625(CA;CA)
Significance Pathogenic
Disease Adrenoleukodystrophy
Variation info
Gene ABCD1
CLNDBN Adrenoleukodystrophy
Reversed 0
HGVS NC_000023.10:g.153008957_153008958delAC
CLNSRC
CLNACC RCV000173620.1,