rs137854101
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.3 | Tuberous Sclerosis Complex |
(T;T) | 0 | common in clinvar |
Make rs137854101(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2056725 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854101 |
dbSNP (classic) | rs137854101 |
ClinGen | rs137854101 |
ebi | rs137854101 |
HLI | rs137854101 |
Exac | rs137854101 |
Gnomad | rs137854101 |
Varsome | rs137854101 |
LitVar | rs137854101 |
Map | rs137854101 |
PheGenI | rs137854101 |
Biobank | rs137854101 |
1000 genomes | rs137854101 |
hgdp | rs137854101 |
ensembl | rs137854101 |
geneview | rs137854101 |
scholar | rs137854101 |
rs137854101 | |
pharmgkb | rs137854101 |
gwascentral | rs137854101 |
openSNP | rs137854101 |
23andMe | rs137854101 |
SNPshot | rs137854101 |
SNPdbe | rs137854101 |
MSV3d | rs137854101 |
GWAS Ctlg | rs137854101 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs137854101(C;C) |
Alt | rs137854101(C;C) |
Reference | Rs137854101(T;T) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome not provided |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.2106726T>C |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000043163.2, RCV000478154.1, |