rs397514913
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.3 | Tuberous Sclerosis Complex |
(G;G) | 0 | common in clinvar |
Make rs397514913(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 2076116 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs397514913 |
dbSNP (classic) | rs397514913 |
ClinGen | rs397514913 |
ebi | rs397514913 |
HLI | rs397514913 |
Exac | rs397514913 |
Gnomad | rs397514913 |
Varsome | rs397514913 |
LitVar | rs397514913 |
Map | rs397514913 |
PheGenI | rs397514913 |
Biobank | rs397514913 |
1000 genomes | rs397514913 |
hgdp | rs397514913 |
ensembl | rs397514913 |
geneview | rs397514913 |
scholar | rs397514913 |
rs397514913 | |
pharmgkb | rs397514913 |
gwascentral | rs397514913 |
openSNP | rs397514913 |
23andMe | rs397514913 |
SNPshot | rs397514913 |
SNPdbe | rs397514913 |
MSV3d | rs397514913 |
GWAS Ctlg | rs397514913 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs397514913(A;A) |
Alt | rs397514913(A;A) |
Reference | Rs397514913(G;G) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2126117G>A |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000055089.1, RCV000233779.1, |