rs137854368
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 6.3 | Tuberous Sclerosis Complex |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs137854368(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2084337 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854368 |
dbSNP (classic) | rs137854368 |
ClinGen | rs137854368 |
ebi | rs137854368 |
HLI | rs137854368 |
Exac | rs137854368 |
Gnomad | rs137854368 |
Varsome | rs137854368 |
LitVar | rs137854368 |
Map | rs137854368 |
PheGenI | rs137854368 |
Biobank | rs137854368 |
1000 genomes | rs137854368 |
hgdp | rs137854368 |
ensembl | rs137854368 |
geneview | rs137854368 |
scholar | rs137854368 |
rs137854368 | |
pharmgkb | rs137854368 |
gwascentral | rs137854368 |
openSNP | rs137854368 |
23andMe | rs137854368 |
SNPshot | rs137854368 |
SNPdbe | rs137854368 |
MSV3d | rs137854368 |
GWAS Ctlg | rs137854368 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs137854368(-;-) |
Alt | rs137854368(-;-) |
Reference | Rs137854368(TG;TG) |
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.2134338_2134339delTG |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042543.2, RCV000201043.1, |