rs137853983
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CCT) | 6.3 | Tuberous Sclerosis Complex |
(CTC;CTC) | 0 | common in clinvar |
Make rs137853983(-;-) |
Make rs137853983(CCT;CCT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 2062522 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs137853983 |
dbSNP (classic) | rs137853983 |
ClinGen | rs137853983 |
ebi | rs137853983 |
HLI | rs137853983 |
Exac | rs137853983 |
Gnomad | rs137853983 |
Varsome | rs137853983 |
LitVar | rs137853983 |
Map | rs137853983 |
PheGenI | rs137853983 |
Biobank | rs137853983 |
1000 genomes | rs137853983 |
hgdp | rs137853983 |
ensembl | rs137853983 |
geneview | rs137853983 |
scholar | rs137853983 |
rs137853983 | |
pharmgkb | rs137853983 |
gwascentral | rs137853983 |
openSNP | rs137853983 |
23andMe | rs137853983 |
SNPshot | rs137853983 |
SNPdbe | rs137853983 |
MSV3d | rs137853983 |
GWAS Ctlg | rs137853983 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs137853983(-;-) |
Alt | rs137853983(-;-) |
Reference | Rs137853983(CTC;CTC) |
Significance | Probable-Pathogenic |
Disease | Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 |
Variation | info |
Gene | TSC2 |
CLNDBN | Tuberous sclerosis syndrome not specified Tuberous sclerosis 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.2112523_2112525delCCT |
CLNSRC | Tuberous sclerosis database (TSC2) |
CLNACC | RCV000042906.2, RCV000190056.1, RCV000475301.1, |