rs118203708
From SNPedia
Merged into | rs118203707 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AACA;AACA) | 0 | common in clinvar |
Make rs118203708(-;-) |
Make rs118203708(-;AACA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 132900828 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203708 |
dbSNP (classic) | rs118203708 |
ClinGen | rs118203708 |
ebi | rs118203708 |
HLI | rs118203708 |
Exac | rs118203708 |
Gnomad | rs118203708 |
Varsome | rs118203708 |
LitVar | rs118203708 |
Map | rs118203708 |
PheGenI | rs118203708 |
Biobank | rs118203708 |
1000 genomes | rs118203708 |
hgdp | rs118203708 |
ensembl | rs118203708 |
geneview | rs118203708 |
scholar | rs118203708 |
rs118203708 | |
pharmgkb | rs118203708 |
gwascentral | rs118203708 |
openSNP | rs118203708 |
23andMe | rs118203708 |
SNPshot | rs118203708 |
SNPdbe | rs118203708 |
MSV3d | rs118203708 |
GWAS Ctlg | rs118203708 |
Status | Merged into rs118203707 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs118203708(AACA;AACA) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 1 |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 1 |
Reversed | 1 |
HGVS | NC_000009.11:g.135776215_135776218delTGTT |
CLNSRC | Tuberous sclerosis database (TSC1) |
CLNACC | RCV000042222.3, RCV000201118.1, |