rs118203727
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118203727(C;T) |
Make rs118203727(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 132897547 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203727 |
dbSNP (classic) | rs118203727 |
ClinGen | rs118203727 |
ebi | rs118203727 |
HLI | rs118203727 |
Exac | rs118203727 |
Gnomad | rs118203727 |
Varsome | rs118203727 |
LitVar | rs118203727 |
Map | rs118203727 |
PheGenI | rs118203727 |
Biobank | rs118203727 |
1000 genomes | rs118203727 |
hgdp | rs118203727 |
ensembl | rs118203727 |
geneview | rs118203727 |
scholar | rs118203727 |
rs118203727 | |
pharmgkb | rs118203727 |
gwascentral | rs118203727 |
openSNP | rs118203727 |
23andMe | rs118203727 |
SNPshot | rs118203727 |
SNPdbe | rs118203727 |
MSV3d | rs118203727 |
GWAS Ctlg | rs118203727 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203727(T;T) |
Alt | rs118203727(T;T) |
Reference | Rs118203727(C;C) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.135772934G>A |
CLNSRC | Tuberous sclerosis database (TSC1) |
CLNACC | RCV000042242.2, RCV000255974.1, RCV000490863.1, |