rs137854380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137854380(A;T) |
Make rs137854380(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 2076066 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854380 |
dbSNP (classic) | rs137854380 |
ClinGen | rs137854380 |
ebi | rs137854380 |
HLI | rs137854380 |
Exac | rs137854380 |
Gnomad | rs137854380 |
Varsome | rs137854380 |
LitVar | rs137854380 |
Map | rs137854380 |
PheGenI | rs137854380 |
Biobank | rs137854380 |
1000 genomes | rs137854380 |
hgdp | rs137854380 |
ensembl | rs137854380 |
geneview | rs137854380 |
scholar | rs137854380 |
rs137854380 | |
pharmgkb | rs137854380 |
gwascentral | rs137854380 |
openSNP | rs137854380 |
23andMe | rs137854380 |
SNPshot | rs137854380 |
SNPdbe | rs137854380 |
MSV3d | rs137854380 |
GWAS Ctlg | rs137854380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854380(G;G) rs137854380(T;T) |
Alt | rs137854380(G;G) rs137854380(T;T) |
Reference | Rs137854380(A;A) |
Significance | Pathogenic |
Disease | not provided Tuberous sclerosis syndrome |
Variation | info |
Gene | TSC2 |
CLNDBN | not provided Tuberous sclerosis syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.2126067A>G; NC_000016.9:g.2126067A>T |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000275327.1, RCV000043352.2, |