rs121964862
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.3 | Tuberous Sclerosis Complex |
Make rs121964862(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 2063042 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs121964862 |
dbSNP (classic) | rs121964862 |
ClinGen | rs121964862 |
ebi | rs121964862 |
HLI | rs121964862 |
Exac | rs121964862 |
Gnomad | rs121964862 |
Varsome | rs121964862 |
LitVar | rs121964862 |
Map | rs121964862 |
PheGenI | rs121964862 |
Biobank | rs121964862 |
1000 genomes | rs121964862 |
hgdp | rs121964862 |
ensembl | rs121964862 |
geneview | rs121964862 |
scholar | rs121964862 |
rs121964862 | |
pharmgkb | rs121964862 |
gwascentral | rs121964862 |
openSNP | rs121964862 |
23andMe | rs121964862 |
SNPshot | rs121964862 |
SNPdbe | rs121964862 |
MSV3d | rs121964862 |
GWAS Ctlg | rs121964862 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121964862(T;T) |
Alt | rs121964862(T;T) |
Reference | Rs121964862(C;C) |
Significance | Pathogenic |
Disease | Tuberous sclerosis 2 Tuberous sclerosis syndrome |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis 2 Tuberous sclerosis syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.2113043C>T |
CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) |
CLNACC | RCV000013208.23, RCV000042413.2, |