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rs1064793877

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4.4 Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(T;T) 7.7 X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
ChromosomeX
Position153743250
GeneABCD1
is asnp
is mentioned by
dbSNPrs1064793877
dbSNP (classic)rs1064793877
ClinGenrs1064793877
ebirs1064793877
HLIrs1064793877
Exacrs1064793877
Gnomadrs1064793877
Varsomers1064793877
LitVarrs1064793877
Maprs1064793877
PheGenIrs1064793877
Biobankrs1064793877
1000 genomesrs1064793877
hgdprs1064793877
ensemblrs1064793877
geneviewrs1064793877
scholarrs1064793877
googlers1064793877
pharmgkbrs1064793877
gwascentralrs1064793877
openSNPrs1064793877
23andMers1064793877
SNPshotrs1064793877
SNPdbers1064793877
MSV3drs1064793877
GWAS Ctlgrs1064793877
Max Magnitude7.7

aka c.1895C>T (p.Thr632Ile)

ClinVar
Risk Rs1064793877(T;T)
Alt Rs1064793877(T;T)
Reference Rs1064793877(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene ABCD1
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.153008704C>T
CLNSRC
CLNACC RCV000480881.1,