rs118203388
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.3 | Tuberous Sclerosis Complex |
(C;C) | 0 | common in clinvar |
Make rs118203388(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 132923361 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203388 |
dbSNP (classic) | rs118203388 |
ClinGen | rs118203388 |
ebi | rs118203388 |
HLI | rs118203388 |
Exac | rs118203388 |
Gnomad | rs118203388 |
Varsome | rs118203388 |
LitVar | rs118203388 |
Map | rs118203388 |
PheGenI | rs118203388 |
Biobank | rs118203388 |
1000 genomes | rs118203388 |
hgdp | rs118203388 |
ensembl | rs118203388 |
geneview | rs118203388 |
scholar | rs118203388 |
rs118203388 | |
pharmgkb | rs118203388 |
gwascentral | rs118203388 |
openSNP | rs118203388 |
23andMe | rs118203388 |
SNPshot | rs118203388 |
SNPdbe | rs118203388 |
MSV3d | rs118203388 |
GWAS Ctlg | rs118203388 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs118203388(A;A) |
Alt | rs118203388(A;A) |
Reference | Rs118203388(C;C) |
Significance | Pathogenic |
Disease | Lymphangiomyomatosis |
Variation | info |
Gene | TSC1 |
CLNDBN | Lymphangiomyomatosis |
Reversed | 1 |
HGVS | NC_000009.11:g.135798748G>T |
CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC1) |
CLNACC | RCV000005408.4, |
[PMID 11829138] Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.