rs869025189
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869025189(C;C) |
Make rs869025189(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 155910658 |
Gene | RIT1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025189 |
dbSNP (classic) | rs869025189 |
ClinGen | rs869025189 |
ebi | rs869025189 |
HLI | rs869025189 |
Exac | rs869025189 |
Gnomad | rs869025189 |
Varsome | rs869025189 |
LitVar | rs869025189 |
Map | rs869025189 |
PheGenI | rs869025189 |
Biobank | rs869025189 |
1000 genomes | rs869025189 |
hgdp | rs869025189 |
ensembl | rs869025189 |
geneview | rs869025189 |
scholar | rs869025189 |
rs869025189 | |
pharmgkb | rs869025189 |
gwascentral | rs869025189 |
openSNP | rs869025189 |
23andMe | rs869025189 |
SNPshot | rs869025189 |
SNPdbe | rs869025189 |
MSV3d | rs869025189 |
GWAS Ctlg | rs869025189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025189(C;C) |
Alt | rs869025189(C;C) |
Reference | Rs869025189(G;G) |
Significance | Pathogenic |
Disease | Noonan syndrome not provided Noonan syndrome 8 |
Variation | info |
Gene | RIT1 |
CLNDBN | Noonan syndrome not provided Noonan syndrome 8 |
Reversed | 1 |
HGVS | NC_000001.10:g.155880449C>G |
CLNSRC | |
CLNACC | RCV000207341.2, RCV000255076.2, RCV000475746.1, |