rs45517255
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.3 | Tuberous Sclerosis Complex |
(T;T) | 0 | common in clinvar |
Make rs45517255(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 2076118 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs45517255 |
dbSNP (classic) | rs45517255 |
ClinGen | rs45517255 |
ebi | rs45517255 |
HLI | rs45517255 |
Exac | rs45517255 |
Gnomad | rs45517255 |
Varsome | rs45517255 |
LitVar | rs45517255 |
Map | rs45517255 |
PheGenI | rs45517255 |
Biobank | rs45517255 |
1000 genomes | rs45517255 |
hgdp | rs45517255 |
ensembl | rs45517255 |
geneview | rs45517255 |
scholar | rs45517255 |
rs45517255 | |
pharmgkb | rs45517255 |
gwascentral | rs45517255 |
openSNP | rs45517255 |
23andMe | rs45517255 |
SNPshot | rs45517255 |
SNPdbe | rs45517255 |
MSV3d | rs45517255 |
GWAS Ctlg | rs45517255 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs45517255(C;C) |
Alt | rs45517255(C;C) |
Reference | Rs45517255(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.2126119T>C |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042856.2, RCV000336828.1, |