rs137853995
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137853995(C;C) |
Make rs137853995(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2074254 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137853995 |
dbSNP (classic) | rs137853995 |
ClinGen | rs137853995 |
ebi | rs137853995 |
HLI | rs137853995 |
Exac | rs137853995 |
Gnomad | rs137853995 |
Varsome | rs137853995 |
LitVar | rs137853995 |
Map | rs137853995 |
PheGenI | rs137853995 |
Biobank | rs137853995 |
1000 genomes | rs137853995 |
hgdp | rs137853995 |
ensembl | rs137853995 |
geneview | rs137853995 |
scholar | rs137853995 |
rs137853995 | |
pharmgkb | rs137853995 |
gwascentral | rs137853995 |
openSNP | rs137853995 |
23andMe | rs137853995 |
SNPshot | rs137853995 |
SNPdbe | rs137853995 |
MSV3d | rs137853995 |
GWAS Ctlg | rs137853995 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853995(C;C) |
Alt | rs137853995(C;C) |
Reference | Rs137853995(T;T) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2124255T>C |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042990.2, RCV000189999.1, RCV000201105.1, |