rs137854122
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TT) | 6.3 | Tuberous Sclerosis Complex |
(TT;TT) | 0 | common in clinvar |
Make rs137854122(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2055408 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854122 |
dbSNP (classic) | rs137854122 |
ClinGen | rs137854122 |
ebi | rs137854122 |
HLI | rs137854122 |
Exac | rs137854122 |
Gnomad | rs137854122 |
Varsome | rs137854122 |
LitVar | rs137854122 |
Map | rs137854122 |
PheGenI | rs137854122 |
Biobank | rs137854122 |
1000 genomes | rs137854122 |
hgdp | rs137854122 |
ensembl | rs137854122 |
geneview | rs137854122 |
scholar | rs137854122 |
rs137854122 | |
pharmgkb | rs137854122 |
gwascentral | rs137854122 |
openSNP | rs137854122 |
23andMe | rs137854122 |
SNPshot | rs137854122 |
SNPdbe | rs137854122 |
MSV3d | rs137854122 |
GWAS Ctlg | rs137854122 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs137854122(-;-) |
Alt | rs137854122(-;-) |
Reference | Rs137854122(TT;TT) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome not provided |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.2105409_2105410delTT |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000043145.2, RCV000478381.1, |