rs869025190
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869025190(G;T) |
Make rs869025190(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 155910462 |
Gene | RIT1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025190 |
dbSNP (classic) | rs869025190 |
ClinGen | rs869025190 |
ebi | rs869025190 |
HLI | rs869025190 |
Exac | rs869025190 |
Gnomad | rs869025190 |
Varsome | rs869025190 |
LitVar | rs869025190 |
Map | rs869025190 |
PheGenI | rs869025190 |
Biobank | rs869025190 |
1000 genomes | rs869025190 |
hgdp | rs869025190 |
ensembl | rs869025190 |
geneview | rs869025190 |
scholar | rs869025190 |
rs869025190 | |
pharmgkb | rs869025190 |
gwascentral | rs869025190 |
openSNP | rs869025190 |
23andMe | rs869025190 |
SNPshot | rs869025190 |
SNPdbe | rs869025190 |
MSV3d | rs869025190 |
GWAS Ctlg | rs869025190 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025190(T;T) |
Alt | rs869025190(T;T) |
Reference | Rs869025190(G;G) |
Significance | Probable-Pathogenic |
Disease | Noonan syndrome |
Variation | info |
Gene | RIT1 |
CLNDBN | Noonan syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.155880253C>A |
CLNSRC | |
CLNACC | RCV000207344.1, |