rs118203345
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs118203345(C;C) |
Make rs118203345(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 132927229 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203345 |
dbSNP (classic) | rs118203345 |
ClinGen | rs118203345 |
ebi | rs118203345 |
HLI | rs118203345 |
Exac | rs118203345 |
Gnomad | rs118203345 |
Varsome | rs118203345 |
LitVar | rs118203345 |
Map | rs118203345 |
PheGenI | rs118203345 |
Biobank | rs118203345 |
1000 genomes | rs118203345 |
hgdp | rs118203345 |
ensembl | rs118203345 |
geneview | rs118203345 |
scholar | rs118203345 |
rs118203345 | |
pharmgkb | rs118203345 |
gwascentral | rs118203345 |
openSNP | rs118203345 |
23andMe | rs118203345 |
SNPshot | rs118203345 |
SNPdbe | rs118203345 |
MSV3d | rs118203345 |
GWAS Ctlg | rs118203345 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203345(C;C) rs118203345(G;G) |
Alt | rs118203345(C;C) rs118203345(G;G) |
Reference | Rs118203345(T;T) |
Significance | Probable-Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 1 |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 1 |
Reversed | 1 |
HGVS | NC_000009.11:g.135802616A>C; NC_000009.11:g.135802616A>G |
CLNSRC | Tuberous sclerosis database (TSC1) UniProtKB (protein) |
CLNACC | RCV000054934.1, RCV000461024.1, RCV000042091.2, |