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rs144486241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144486241(C;T)
Make rs144486241(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position81357902
GeneGAN
is asnp
is mentioned by
dbSNPrs144486241
dbSNP (classic)rs144486241
ClinGenrs144486241
ebirs144486241
HLIrs144486241
Exacrs144486241
Gnomadrs144486241
Varsomers144486241
LitVarrs144486241
Maprs144486241
PheGenIrs144486241
Biobankrs144486241
1000 genomesrs144486241
hgdprs144486241
ensemblrs144486241
geneviewrs144486241
scholarrs144486241
googlers144486241
pharmgkbrs144486241
gwascentralrs144486241
openSNPrs144486241
23andMers144486241
SNPshotrs144486241
SNPdbers144486241
MSV3drs144486241
GWAS Ctlgrs144486241
Max Magnitude0
ClinVar
Risk rs144486241(G;G) rs144486241(T;T)
Alt rs144486241(G;G) rs144486241(T;T)
Reference Rs144486241(C;C)
Significance Pathogenic
Disease not provided Giant axonal neuropathy
Variation info
Gene GAN
CLNDBN not provided Giant axonal neuropathy
Reversed 0
HGVS NC_000016.9:g.81391507C>T
CLNSRC
CLNACC RCV000236891.2, RCV000396992.1,