rs137854397
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCCAGCGGGTAGGGAATATGGGGCTCC;GCCAGCGGGTAGGGAATATGGGGCTCC) | 0 | common/normal |
(GGCTCCGCCAGCGGGTAGGGAATATGG;GGCTCCGCCAGCGGGTAGGGAATATGG) | 0 | common in clinvar |
Make rs137854397(-;-) |
Make rs137854397(-;GCCAGCGGGTAGGGAATATGGGGCTCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2088318 |
Gene | PKD1, TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854397 |
dbSNP (classic) | rs137854397 |
ClinGen | rs137854397 |
ebi | rs137854397 |
HLI | rs137854397 |
Exac | rs137854397 |
Gnomad | rs137854397 |
Varsome | rs137854397 |
LitVar | rs137854397 |
Map | rs137854397 |
PheGenI | rs137854397 |
Biobank | rs137854397 |
1000 genomes | rs137854397 |
hgdp | rs137854397 |
ensembl | rs137854397 |
geneview | rs137854397 |
scholar | rs137854397 |
rs137854397 | |
pharmgkb | rs137854397 |
gwascentral | rs137854397 |
openSNP | rs137854397 |
23andMe | rs137854397 |
SNPshot | rs137854397 |
SNPdbe | rs137854397 |
MSV3d | rs137854397 |
GWAS Ctlg | rs137854397 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854397(-;-) |
Alt | rs137854397(-;-) |
Reference | Rs137854397(GGCTCCGCCAGCGGGTAGGGAATATGG;GGCTCCGCCAGCGGGTAGGGAATATGG) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 PKD1 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2138319_2138345del27 |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042626.2, RCV000201086.1, |