rs398122808
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398122808(-;AGG) |
Make rs398122808(AGG;AGG) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 11 |
Position | 534210 |
Gene | HRAS, LRRC56 |
is a | snp |
is | mentioned by |
dbSNP | rs398122808 |
dbSNP (classic) | rs398122808 |
ClinGen | rs398122808 |
ebi | rs398122808 |
HLI | rs398122808 |
Exac | rs398122808 |
Gnomad | rs398122808 |
Varsome | rs398122808 |
LitVar | rs398122808 |
Map | rs398122808 |
PheGenI | rs398122808 |
Biobank | rs398122808 |
1000 genomes | rs398122808 |
hgdp | rs398122808 |
ensembl | rs398122808 |
geneview | rs398122808 |
scholar | rs398122808 |
rs398122808 | |
pharmgkb | rs398122808 |
gwascentral | rs398122808 |
openSNP | rs398122808 |
23andMe | rs398122808 |
SNPshot | rs398122808 |
SNPdbe | rs398122808 |
MSV3d | rs398122808 |
GWAS Ctlg | rs398122808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122808(AGG;AGG) |
Alt | rs398122808(AGG;AGG) |
Reference | Rs398122808(-;-) |
Significance | Pathogenic |
Disease | Costello syndrome |
Variation | info |
Gene | HRAS |
CLNDBN | Costello syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.534211_534213dupCCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022797.22, |