rs397514818
From SNPedia
Merged into | rs118203557 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG) | 0 | common in clinvar |
Make rs397514818(-;-) |
Make rs397514818(-;CAGTGCTGATGAAAGCCCTGCGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 132905876 |
Gene | TSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514818 |
dbSNP (classic) | rs397514818 |
ClinGen | rs397514818 |
ebi | rs397514818 |
HLI | rs397514818 |
Exac | rs397514818 |
Gnomad | rs397514818 |
Varsome | rs397514818 |
LitVar | rs397514818 |
Map | rs397514818 |
PheGenI | rs397514818 |
Biobank | rs397514818 |
1000 genomes | rs397514818 |
hgdp | rs397514818 |
ensembl | rs397514818 |
geneview | rs397514818 |
scholar | rs397514818 |
rs397514818 | |
pharmgkb | rs397514818 |
gwascentral | rs397514818 |
openSNP | rs397514818 |
23andMe | rs397514818 |
SNPshot | rs397514818 |
SNPdbe | rs397514818 |
MSV3d | rs397514818 |
GWAS Ctlg | rs397514818 |
Status | Merged into rs118203557 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs397514818(CAGTGCTGATGAAAGCCCTGCGG;CAGTGCTGATGAAAGCCCTGCGG) |
Significance | Pathogenic |
Disease | Tuberous sclerosis 1 Tuberous sclerosis syndrome |
Variation | info |
Gene | TSC1 |
CLNDBN | Tuberous sclerosis 1 Tuberous sclerosis syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.135781263_135781285del23 |
CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC1) |
CLNACC | RCV000005407.2, RCV000054946.1, |