rs397515297
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.3 | Tuberous Sclerosis Complex |
Make rs397515297(A;A) |
Make rs397515297(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2064275 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515297 |
dbSNP (classic) | rs397515297 |
ClinGen | rs397515297 |
ebi | rs397515297 |
HLI | rs397515297 |
Exac | rs397515297 |
Gnomad | rs397515297 |
Varsome | rs397515297 |
LitVar | rs397515297 |
Map | rs397515297 |
PheGenI | rs397515297 |
Biobank | rs397515297 |
1000 genomes | rs397515297 |
hgdp | rs397515297 |
ensembl | rs397515297 |
geneview | rs397515297 |
scholar | rs397515297 |
rs397515297 | |
pharmgkb | rs397515297 |
gwascentral | rs397515297 |
openSNP | rs397515297 |
23andMe | rs397515297 |
SNPshot | rs397515297 |
SNPdbe | rs397515297 |
MSV3d | rs397515297 |
GWAS Ctlg | rs397515297 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs397515297(A;A) rs397515297(T;T) |
Alt | rs397515297(A;A) rs397515297(T;T) |
Reference | Rs397515297(G;G) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.2114276G>T |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000055085.1, RCV000201103.1, RCV000491130.1, |