rs1064792923
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCCTACTCCAACCCCA;GCCTACTCCAACCCCA) | 0 | common in clinvar |
Chromosome | 16 |
Position | 2088467 |
Gene | PKD1, TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792923 |
dbSNP (classic) | rs1064792923 |
ClinGen | rs1064792923 |
ebi | rs1064792923 |
HLI | rs1064792923 |
Exac | rs1064792923 |
Gnomad | rs1064792923 |
Varsome | rs1064792923 |
LitVar | rs1064792923 |
Map | rs1064792923 |
PheGenI | rs1064792923 |
Biobank | rs1064792923 |
1000 genomes | rs1064792923 |
hgdp | rs1064792923 |
ensembl | rs1064792923 |
geneview | rs1064792923 |
scholar | rs1064792923 |
rs1064792923 | |
pharmgkb | rs1064792923 |
gwascentral | rs1064792923 |
openSNP | rs1064792923 |
23andMe | rs1064792923 |
SNPshot | rs1064792923 |
SNPdbe | rs1064792923 |
MSV3d | rs1064792923 |
GWAS Ctlg | rs1064792923 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792923(-;-) |
Alt | rs1064792923(-;-) |
Reference | Rs1064792923(GCCTACTCCAACCCCA;GCCTACTCCAACCCCA) |
Significance | Pathogenic |
Disease | Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 PKD1 |
CLNDBN | Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2138468_2138483del16 |
CLNSRC | |
CLNACC | RCV000464189.1, |