rs747291494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs747291494(A;A) |
Make rs747291494(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 81357003 |
Gene | GAN |
is a | snp |
is | mentioned by |
dbSNP | rs747291494 |
dbSNP (classic) | rs747291494 |
ClinGen | rs747291494 |
ebi | rs747291494 |
HLI | rs747291494 |
Exac | rs747291494 |
Gnomad | rs747291494 |
Varsome | rs747291494 |
LitVar | rs747291494 |
Map | rs747291494 |
PheGenI | rs747291494 |
Biobank | rs747291494 |
1000 genomes | rs747291494 |
hgdp | rs747291494 |
ensembl | rs747291494 |
geneview | rs747291494 |
scholar | rs747291494 |
rs747291494 | |
pharmgkb | rs747291494 |
gwascentral | rs747291494 |
openSNP | rs747291494 |
23andMe | rs747291494 |
SNPshot | rs747291494 |
SNPdbe | rs747291494 |
MSV3d | rs747291494 |
GWAS Ctlg | rs747291494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747291494(A;A) |
Alt | rs747291494(A;A) |
Reference | Rs747291494(G;G) |
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.81390608G>A |
CLNSRC | |
CLNACC | RCV000235982.2, RCV000283751.1, |