rs863225264
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863225264(A;A) |
Make rs863225264(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11130747 |
Gene | MTOR |
is a | snp |
is | mentioned by |
dbSNP | rs863225264 |
dbSNP (classic) | rs863225264 |
ClinGen | rs863225264 |
ebi | rs863225264 |
HLI | rs863225264 |
Exac | rs863225264 |
Gnomad | rs863225264 |
Varsome | rs863225264 |
LitVar | rs863225264 |
Map | rs863225264 |
PheGenI | rs863225264 |
Biobank | rs863225264 |
1000 genomes | rs863225264 |
hgdp | rs863225264 |
ensembl | rs863225264 |
geneview | rs863225264 |
scholar | rs863225264 |
rs863225264 | |
pharmgkb | rs863225264 |
gwascentral | rs863225264 |
openSNP | rs863225264 |
23andMe | rs863225264 |
SNPshot | rs863225264 |
SNPdbe | rs863225264 |
MSV3d | rs863225264 |
GWAS Ctlg | rs863225264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225264(A;A) |
Alt | rs863225264(A;A) |
Reference | Rs863225264(G;G) |
Significance | Pathogenic |
Disease | Smith-Kingsmore syndrome not provided |
Variation | info |
Gene | MTOR |
CLNDBN | Smith-Kingsmore syndrome not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.11190804C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201885.2, RCV000255268.2, |