rs137854360
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTGA) | 6.3 | Tuberous Sclerosis Complex |
(ACTG;ACTG) | 0 | common in clinvar |
Make rs137854360(-;-) |
Make rs137854360(CTGA;CTGA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2048748 |
Gene | NTHL1, TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854360 |
dbSNP (classic) | rs137854360 |
ClinGen | rs137854360 |
ebi | rs137854360 |
HLI | rs137854360 |
Exac | rs137854360 |
Gnomad | rs137854360 |
Varsome | rs137854360 |
LitVar | rs137854360 |
Map | rs137854360 |
PheGenI | rs137854360 |
Biobank | rs137854360 |
1000 genomes | rs137854360 |
hgdp | rs137854360 |
ensembl | rs137854360 |
geneview | rs137854360 |
scholar | rs137854360 |
rs137854360 | |
pharmgkb | rs137854360 |
gwascentral | rs137854360 |
openSNP | rs137854360 |
23andMe | rs137854360 |
SNPshot | rs137854360 |
SNPdbe | rs137854360 |
MSV3d | rs137854360 |
GWAS Ctlg | rs137854360 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs137854360(-;-) |
Alt | rs137854360(-;-) |
Reference | Rs137854360(ACTG;ACTG) |
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.2098749_2098752delCTGA |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042406.2, RCV000484317.1, |