rs118203557
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CAGTGCTGATGAAAGCCCTGCGG) | 6.3 | Tuberous Sclerosis Complex |
(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG) | 0 | common in clinvar |
(CCCTGCGGCAGTGCTGATGAAAG;CCCTGCGGCAGTGCTGATGAAAG) | 0 | common in clinvar |
(GCCCTGCGGCAGTGCTGATGAAA;GCCCTGCGGCAGTGCTGATGAAA) | 0 | common in clinvar |
Make rs118203557(-;-) |
Make rs118203557(-;GCCCTGCGGCAGTGCTGATGAAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 132905885 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203557 |
dbSNP (classic) | rs118203557 |
ClinGen | rs118203557 |
ebi | rs118203557 |
HLI | rs118203557 |
Exac | rs118203557 |
Gnomad | rs118203557 |
Varsome | rs118203557 |
LitVar | rs118203557 |
Map | rs118203557 |
PheGenI | rs118203557 |
Biobank | rs118203557 |
1000 genomes | rs118203557 |
hgdp | rs118203557 |
ensembl | rs118203557 |
geneview | rs118203557 |
scholar | rs118203557 |
rs118203557 | |
pharmgkb | rs118203557 |
gwascentral | rs118203557 |
openSNP | rs118203557 |
23andMe | rs118203557 |
SNPshot | rs118203557 |
SNPdbe | rs118203557 |
MSV3d | rs118203557 |
GWAS Ctlg | rs118203557 |
Merged from | Rs397514818 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | Rs118203557(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG) rs118203557(-;-) |
Alt | Rs118203557(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG) rs118203557(-;-) |
Reference | Rs118203557(GCCCTGCGGCAGTGCTGATGAAA;GCCCTGCGGCAGTGCTGATGAAA) |
Significance | Pathogenic |
Disease | Tuberous sclerosis 1 Tuberous sclerosis syndrome |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis 1 Tuberous sclerosis syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.135781263_135781285del23 |
CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC1) |
CLNACC | RCV000005407.2, RCV000054946.1, |
[PMID 9242607] Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
[PMID 10227394] Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.