rs878854082
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTGCAGCGTGGAGATGCCTGACATCATCATCA;TCTGCAGCGTGGAGATGCCTGACATCATCATCA) | 0 | common in clinvar |
Make rs878854082(C;C) |
Make rs878854082(C;TCTGCAGCGTGGAGATGCCTGACATCATCATCA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 2074273 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs878854082 |
dbSNP (classic) | rs878854082 |
ClinGen | rs878854082 |
ebi | rs878854082 |
HLI | rs878854082 |
Exac | rs878854082 |
Gnomad | rs878854082 |
Varsome | rs878854082 |
LitVar | rs878854082 |
Map | rs878854082 |
PheGenI | rs878854082 |
Biobank | rs878854082 |
1000 genomes | rs878854082 |
hgdp | rs878854082 |
ensembl | rs878854082 |
geneview | rs878854082 |
scholar | rs878854082 |
rs878854082 | |
pharmgkb | rs878854082 |
gwascentral | rs878854082 |
openSNP | rs878854082 |
23andMe | rs878854082 |
SNPshot | rs878854082 |
SNPdbe | rs878854082 |
MSV3d | rs878854082 |
GWAS Ctlg | rs878854082 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854082(C;C) |
Alt | rs878854082(C;C) |
Reference | Rs878854082(TCTGCAGCGTGGAGATGCCTGACATCATCATCA;TCTGCAGCGTGGAGATGCCTGACATCATCATCA) |
Significance | Pathogenic |
Disease | Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2124274_2124306del33insC |
CLNSRC | |
CLNACC | RCV000231818.1, |