rs118203544
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
(CA;CA) | 0 | common in clinvar |
Make rs118203544(-;-) |
Make rs118203544(-;AC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 132906048 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203544 |
dbSNP (classic) | rs118203544 |
ClinGen | rs118203544 |
ebi | rs118203544 |
HLI | rs118203544 |
Exac | rs118203544 |
Gnomad | rs118203544 |
Varsome | rs118203544 |
LitVar | rs118203544 |
Map | rs118203544 |
PheGenI | rs118203544 |
Biobank | rs118203544 |
1000 genomes | rs118203544 |
hgdp | rs118203544 |
ensembl | rs118203544 |
geneview | rs118203544 |
scholar | rs118203544 |
rs118203544 | |
pharmgkb | rs118203544 |
gwascentral | rs118203544 |
openSNP | rs118203544 |
23andMe | rs118203544 |
SNPshot | rs118203544 |
SNPdbe | rs118203544 |
MSV3d | rs118203544 |
GWAS Ctlg | rs118203544 |
Merged from | Rs878853960 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs118203544(CA;CA) rs118203544(-;-) |
Alt | Rs118203544(CA;CA) rs118203544(-;-) |
Reference | Rs118203544(AC;AC) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 1 |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 1 |
Reversed | 1 |
HGVS | NC_000009.11:g.135781434_135781435delTG |
CLNSRC | Tuberous sclerosis database (TSC1) |
CLNACC | RCV000042045.2, RCV000227889.1, |