rs727504747
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs727504747(CT;CT) |
Make rs727504747(CT;GC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 533880 |
Gene | HRAS, LRRC56 |
is a | snp |
is | mentioned by |
dbSNP | rs727504747 |
dbSNP (classic) | rs727504747 |
ClinGen | rs727504747 |
ebi | rs727504747 |
HLI | rs727504747 |
Exac | rs727504747 |
Gnomad | rs727504747 |
Varsome | rs727504747 |
LitVar | rs727504747 |
Map | rs727504747 |
PheGenI | rs727504747 |
Biobank | rs727504747 |
1000 genomes | rs727504747 |
hgdp | rs727504747 |
ensembl | rs727504747 |
geneview | rs727504747 |
scholar | rs727504747 |
rs727504747 | |
pharmgkb | rs727504747 |
gwascentral | rs727504747 |
openSNP | rs727504747 |
23andMe | rs727504747 |
SNPshot | rs727504747 |
SNPdbe | rs727504747 |
MSV3d | rs727504747 |
GWAS Ctlg | rs727504747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504747(CT;CT) |
Alt | rs727504747(CT;CT) |
Reference | Rs727504747(GC;GC) |
Significance | Probable-Pathogenic |
Disease | Costello syndrome |
Variation | info |
Gene | HRAS |
CLNDBN | Costello syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.533880_533881delinsAG |
CLNSRC | |
CLNACC | RCV000156047.1, |