rs118203728
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118203728(C;T) |
Make rs118203728(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 132897544 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203728 |
dbSNP (old) | rs118203728 |
ClinGen | rs118203728 |
ebi | rs118203728 |
HLI | rs118203728 |
Exac | rs118203728 |
Gnomad | rs118203728 |
Varsome | rs118203728 |
Map | rs118203728 |
PheGenI | rs118203728 |
Biobank | rs118203728 |
1000 genomes | rs118203728 |
hgdp | rs118203728 |
ensembl | rs118203728 |
gopubmed | rs118203728 |
geneview | rs118203728 |
scholar | rs118203728 |
rs118203728 | |
pharmgkb | rs118203728 |
gwascentral | rs118203728 |
openSNP | rs118203728 |
23andMe | rs118203728 |
23andMe all | rs118203728 |
SNPshot | rs118203728 |
SNPdbe | rs118203728 |
MSV3d | rs118203728 |
GWAS Ctlg | rs118203728 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203728(T;T) |
Alt | rs118203728(T;T) |
Reference | Rs118203728(C;C) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.135772931G>A |
CLNSRC | Tuberous sclerosis database (TSC1) |
CLNACC | RCV000042243.2, RCV000491065.1, |