rs45517246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6.3 | Tuberous Sclerosis Complex |
Make rs45517246(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2075797 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs45517246 |
dbSNP (classic) | rs45517246 |
ClinGen | rs45517246 |
ebi | rs45517246 |
HLI | rs45517246 |
Exac | rs45517246 |
Gnomad | rs45517246 |
Varsome | rs45517246 |
LitVar | rs45517246 |
Map | rs45517246 |
PheGenI | rs45517246 |
Biobank | rs45517246 |
1000 genomes | rs45517246 |
hgdp | rs45517246 |
ensembl | rs45517246 |
geneview | rs45517246 |
scholar | rs45517246 |
rs45517246 | |
pharmgkb | rs45517246 |
gwascentral | rs45517246 |
openSNP | rs45517246 |
23andMe | rs45517246 |
SNPshot | rs45517246 |
SNPdbe | rs45517246 |
MSV3d | rs45517246 |
GWAS Ctlg | rs45517246 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs45517246(G;G) rs45517246(T;T) |
Alt | rs45517246(G;G) rs45517246(T;T) |
Reference | Rs45517246(A;A) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2125798A>G; NC_000016.9:g.2125798A>T |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000043045.2, RCV000176373.1, RCV000042473.2, |