rs727503093
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 7 | Costello syndrome |
(G;G) | 0 | common in clinvar |
Make rs727503093(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 533881 |
Gene | HRAS, LRRC56 |
is a | snp |
is | mentioned by |
dbSNP | rs727503093 |
dbSNP (classic) | rs727503093 |
ClinGen | rs727503093 |
ebi | rs727503093 |
HLI | rs727503093 |
Exac | rs727503093 |
Gnomad | rs727503093 |
Varsome | rs727503093 |
LitVar | rs727503093 |
Map | rs727503093 |
PheGenI | rs727503093 |
Biobank | rs727503093 |
1000 genomes | rs727503093 |
hgdp | rs727503093 |
ensembl | rs727503093 |
geneview | rs727503093 |
scholar | rs727503093 |
rs727503093 | |
pharmgkb | rs727503093 |
gwascentral | rs727503093 |
openSNP | rs727503093 |
23andMe | rs727503093 |
SNPshot | rs727503093 |
SNPdbe | rs727503093 |
MSV3d | rs727503093 |
GWAS Ctlg | rs727503093 |
Max Magnitude | 7 |
aka c.175G>A (p.Ala59Thr)
ClinVar | |
---|---|
Risk | rs727503093(A;A) |
Alt | rs727503093(A;A) |
Reference | Rs727503093(G;G) |
Significance | Probable-Pathogenic |
Disease | Non-small cell lung cancer Costello syndrome |
Variation | info |
Gene | HRAS |
CLNDBN | Non-small cell lung cancer Costello syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.533881C>T |
CLNSRC | |
CLNACC | RCV000150834.1, RCV000150835.1, |