rs45466296
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.3 | Tuberous Sclerosis Complex |
(G;G) | 0 | common in clinvar |
Make rs45466296(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2057179 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs45466296 |
dbSNP (classic) | rs45466296 |
ClinGen | rs45466296 |
ebi | rs45466296 |
HLI | rs45466296 |
Exac | rs45466296 |
Gnomad | rs45466296 |
Varsome | rs45466296 |
LitVar | rs45466296 |
Map | rs45466296 |
PheGenI | rs45466296 |
Biobank | rs45466296 |
1000 genomes | rs45466296 |
hgdp | rs45466296 |
ensembl | rs45466296 |
geneview | rs45466296 |
scholar | rs45466296 |
rs45466296 | |
pharmgkb | rs45466296 |
gwascentral | rs45466296 |
openSNP | rs45466296 |
23andMe | rs45466296 |
SNPshot | rs45466296 |
SNPdbe | rs45466296 |
MSV3d | rs45466296 |
GWAS Ctlg | rs45466296 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs45466296(A;A) |
Alt | rs45466296(A;A) |
Reference | Rs45466296(G;G) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2107180G>A |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000043189.2, RCV000190083.1, RCV000201109.1, |