rs137854117
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs137854117(-;-) |
Make rs137854117(-;AG) |
Make rs137854117(AG;AG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2048753 |
Gene | NTHL1, TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854117 |
dbSNP (classic) | rs137854117 |
ClinGen | rs137854117 |
ebi | rs137854117 |
HLI | rs137854117 |
Exac | rs137854117 |
Gnomad | rs137854117 |
Varsome | rs137854117 |
LitVar | rs137854117 |
Map | rs137854117 |
PheGenI | rs137854117 |
Biobank | rs137854117 |
1000 genomes | rs137854117 |
hgdp | rs137854117 |
ensembl | rs137854117 |
geneview | rs137854117 |
scholar | rs137854117 |
rs137854117 | |
pharmgkb | rs137854117 |
gwascentral | rs137854117 |
openSNP | rs137854117 |
23andMe | rs137854117 |
SNPshot | rs137854117 |
SNPdbe | rs137854117 |
MSV3d | rs137854117 |
GWAS Ctlg | rs137854117 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854117(-;-) |
Alt | rs137854117(-;-) |
Reference | Rs137854117(GA;GA) |
Significance | Pathogenic |
Disease | Tuberous sclerosis syndrome not provided |
Variation | info |
Gene | NTHL1 TSC2 |
CLNDBN | Tuberous sclerosis syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.2098754_2098755delAG |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042937.2, RCV000413387.1, |