rs137853993
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTGT;CTGT) | 0 | common in clinvar |
Make rs137853993(-;-) |
Make rs137853993(-;GTCT) |
Make rs137853993(GTCT;GTCT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2081677 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137853993 |
dbSNP (classic) | rs137853993 |
ClinGen | rs137853993 |
ebi | rs137853993 |
HLI | rs137853993 |
Exac | rs137853993 |
Gnomad | rs137853993 |
Varsome | rs137853993 |
LitVar | rs137853993 |
Map | rs137853993 |
PheGenI | rs137853993 |
Biobank | rs137853993 |
1000 genomes | rs137853993 |
hgdp | rs137853993 |
ensembl | rs137853993 |
geneview | rs137853993 |
scholar | rs137853993 |
rs137853993 | |
pharmgkb | rs137853993 |
gwascentral | rs137853993 |
openSNP | rs137853993 |
23andMe | rs137853993 |
SNPshot | rs137853993 |
SNPdbe | rs137853993 |
MSV3d | rs137853993 |
GWAS Ctlg | rs137853993 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853993(-;-) |
Alt | rs137853993(-;-) |
Reference | Rs137853993(CTGT;CTGT) |
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.2131678_2131681delGTCT |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000043281.2, RCV000489018.1, |