rs144486241
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144486241(C;T) |
Make rs144486241(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 81357902 |
Gene | GAN |
is a | snp |
is | mentioned by |
dbSNP | rs144486241 |
dbSNP (classic) | rs144486241 |
ClinGen | rs144486241 |
ebi | rs144486241 |
HLI | rs144486241 |
Exac | rs144486241 |
Gnomad | rs144486241 |
Varsome | rs144486241 |
LitVar | rs144486241 |
Map | rs144486241 |
PheGenI | rs144486241 |
Biobank | rs144486241 |
1000 genomes | rs144486241 |
hgdp | rs144486241 |
ensembl | rs144486241 |
geneview | rs144486241 |
scholar | rs144486241 |
rs144486241 | |
pharmgkb | rs144486241 |
gwascentral | rs144486241 |
openSNP | rs144486241 |
23andMe | rs144486241 |
SNPshot | rs144486241 |
SNPdbe | rs144486241 |
MSV3d | rs144486241 |
GWAS Ctlg | rs144486241 |
Max Magnitude | 0 |
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, |