rs397514776
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.3 | Tuberous Sclerosis Complex |
(T;T) | 0 | common in clinvar |
Make rs397514776(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 132925690 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514776 |
dbSNP (classic) | rs397514776 |
ClinGen | rs397514776 |
ebi | rs397514776 |
HLI | rs397514776 |
Exac | rs397514776 |
Gnomad | rs397514776 |
Varsome | rs397514776 |
LitVar | rs397514776 |
Map | rs397514776 |
PheGenI | rs397514776 |
Biobank | rs397514776 |
1000 genomes | rs397514776 |
hgdp | rs397514776 |
ensembl | rs397514776 |
geneview | rs397514776 |
scholar | rs397514776 |
rs397514776 | |
pharmgkb | rs397514776 |
gwascentral | rs397514776 |
openSNP | rs397514776 |
23andMe | rs397514776 |
SNPshot | rs397514776 |
SNPdbe | rs397514776 |
MSV3d | rs397514776 |
GWAS Ctlg | rs397514776 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs397514776(G;G) |
Alt | rs397514776(G;G) |
Reference | Rs397514776(T;T) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome not provided |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis syndrome not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.135801077A>C |
CLNSRC | Tuberous sclerosis database (TSC1) |
CLNACC | RCV000054878.1, RCV000305404.1, |