rs118203707
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AACA) | 6.3 | Tuberous Sclerosis Complex |
(AAAC;AAAC) | 0 | common in clinvar |
(AACA;AACA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs118203707(-;-) |
Make rs118203707(-;AAAC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 132900829 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203707 |
dbSNP (classic) | rs118203707 |
ClinGen | rs118203707 |
ebi | rs118203707 |
HLI | rs118203707 |
Exac | rs118203707 |
Gnomad | rs118203707 |
Varsome | rs118203707 |
LitVar | rs118203707 |
Map | rs118203707 |
PheGenI | rs118203707 |
Biobank | rs118203707 |
1000 genomes | rs118203707 |
hgdp | rs118203707 |
ensembl | rs118203707 |
geneview | rs118203707 |
scholar | rs118203707 |
rs118203707 | |
pharmgkb | rs118203707 |
gwascentral | rs118203707 |
openSNP | rs118203707 |
23andMe | rs118203707 |
SNPshot | rs118203707 |
SNPdbe | rs118203707 |
MSV3d | rs118203707 |
GWAS Ctlg | rs118203707 |
Merged from | Rs118203708 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | Rs118203707(AACA;AACA) rs118203707(-;-) |
Alt | Rs118203707(AACA;AACA) rs118203707(-;-) |
Reference | Rs118203707(AAAC;AAAC) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical tubers Multiple renal cysts Seizures |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical tubers Multiple renal cysts Seizures |
Reversed | 1 |
HGVS | NC_000009.11:g.135776215_135776218delTGTT |
CLNSRC | Tuberous sclerosis database (TSC1) |
CLNACC | RCV000042222.3, RCV000201118.1, RCV000415443.1, |