rs137854249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs137854249(-;-) |
Make rs137854249(-;TT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2086816 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854249 |
dbSNP (classic) | rs137854249 |
ClinGen | rs137854249 |
ebi | rs137854249 |
HLI | rs137854249 |
Exac | rs137854249 |
Gnomad | rs137854249 |
Varsome | rs137854249 |
LitVar | rs137854249 |
Map | rs137854249 |
PheGenI | rs137854249 |
Biobank | rs137854249 |
1000 genomes | rs137854249 |
hgdp | rs137854249 |
ensembl | rs137854249 |
geneview | rs137854249 |
scholar | rs137854249 |
rs137854249 | |
pharmgkb | rs137854249 |
gwascentral | rs137854249 |
openSNP | rs137854249 |
23andMe | rs137854249 |
SNPshot | rs137854249 |
SNPdbe | rs137854249 |
MSV3d | rs137854249 |
GWAS Ctlg | rs137854249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854249(-;-) |
Alt | rs137854249(-;-) |
Reference | Rs137854249(TT;TT) |
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.2136817_2136818delTT |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000043248.2, RCV000201116.1, |