rs137854128
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAT;CAT) | 0 | common in clinvar |
(TCA;TCA) | 0 | common in clinvar |
Make rs137854128(-;-) |
Make rs137854128(-;TCA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2074303 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854128 |
dbSNP (classic) | rs137854128 |
ClinGen | rs137854128 |
ebi | rs137854128 |
HLI | rs137854128 |
Exac | rs137854128 |
Gnomad | rs137854128 |
Varsome | rs137854128 |
LitVar | rs137854128 |
Map | rs137854128 |
PheGenI | rs137854128 |
Biobank | rs137854128 |
1000 genomes | rs137854128 |
hgdp | rs137854128 |
ensembl | rs137854128 |
geneview | rs137854128 |
scholar | rs137854128 |
rs137854128 | |
pharmgkb | rs137854128 |
gwascentral | rs137854128 |
openSNP | rs137854128 |
23andMe | rs137854128 |
SNPshot | rs137854128 |
SNPdbe | rs137854128 |
MSV3d | rs137854128 |
GWAS Ctlg | rs137854128 |
Merged from | Rs137854352 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854128(-;-) rs137854128(ATC;ATC) |
Alt | rs137854128(-;-) rs137854128(ATC;ATC) |
Reference | Rs137854128(TCA;TCA) |
Significance | Probable-Pathogenic |
Disease | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2124304_2124306delTCA |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042853.3, RCV000201194.1, |