rs1060503213
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060503213(-;-) |
Make rs1060503213(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 132903694 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503213 |
dbSNP (classic) | rs1060503213 |
ClinGen | rs1060503213 |
ebi | rs1060503213 |
HLI | rs1060503213 |
Exac | rs1060503213 |
Gnomad | rs1060503213 |
Varsome | rs1060503213 |
LitVar | rs1060503213 |
Map | rs1060503213 |
PheGenI | rs1060503213 |
Biobank | rs1060503213 |
1000 genomes | rs1060503213 |
hgdp | rs1060503213 |
ensembl | rs1060503213 |
geneview | rs1060503213 |
scholar | rs1060503213 |
rs1060503213 | |
pharmgkb | rs1060503213 |
gwascentral | rs1060503213 |
openSNP | rs1060503213 |
23andMe | rs1060503213 |
SNPshot | rs1060503213 |
SNPdbe | rs1060503213 |
MSV3d | rs1060503213 |
GWAS Ctlg | rs1060503213 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503213(-;-) |
Alt | rs1060503213(-;-) |
Reference | Rs1060503213(A;A) |
Significance | Pathogenic |
Disease | Tuberous sclerosis 1 |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis 1 |
Reversed | 1 |
HGVS | NC_000009.11:g.135779081delT |
CLNSRC | |
CLNACC | RCV000466326.1, |