rs397514875
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514875(-;-) |
Make rs397514875(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 132897564 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514875 |
dbSNP (classic) | rs397514875 |
ClinGen | rs397514875 |
ebi | rs397514875 |
HLI | rs397514875 |
Exac | rs397514875 |
Gnomad | rs397514875 |
Varsome | rs397514875 |
LitVar | rs397514875 |
Map | rs397514875 |
PheGenI | rs397514875 |
Biobank | rs397514875 |
1000 genomes | rs397514875 |
hgdp | rs397514875 |
ensembl | rs397514875 |
geneview | rs397514875 |
scholar | rs397514875 |
rs397514875 | |
pharmgkb | rs397514875 |
gwascentral | rs397514875 |
openSNP | rs397514875 |
23andMe | rs397514875 |
SNPshot | rs397514875 |
SNPdbe | rs397514875 |
MSV3d | rs397514875 |
GWAS Ctlg | rs397514875 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514875(-;-) |
Alt | rs397514875(-;-) |
Reference | Rs397514875(A;A) |
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.135772951delT |
CLNSRC | Tuberous sclerosis database (TSC1) |
CLNACC | RCV000055029.1, RCV000201176.1, |