rs796053512
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796053512(C;T) |
Make rs796053512(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2076129 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs796053512 |
dbSNP (classic) | rs796053512 |
ClinGen | rs796053512 |
ebi | rs796053512 |
HLI | rs796053512 |
Exac | rs796053512 |
Gnomad | rs796053512 |
Varsome | rs796053512 |
LitVar | rs796053512 |
Map | rs796053512 |
PheGenI | rs796053512 |
Biobank | rs796053512 |
1000 genomes | rs796053512 |
hgdp | rs796053512 |
ensembl | rs796053512 |
geneview | rs796053512 |
scholar | rs796053512 |
rs796053512 | |
pharmgkb | rs796053512 |
gwascentral | rs796053512 |
openSNP | rs796053512 |
23andMe | rs796053512 |
SNPshot | rs796053512 |
SNPdbe | rs796053512 |
MSV3d | rs796053512 |
GWAS Ctlg | rs796053512 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053512(T;T) |
Alt | rs796053512(T;T) |
Reference | Rs796053512(C;C) |
Significance | Probable-Pathogenic |
Disease | Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2126130C>T |
CLNSRC | |
CLNACC | RCV000231440.2, |