rs869025191
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869025191(A;A) |
Make rs869025191(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 155904739 |
Gene | RIT1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025191 |
dbSNP (classic) | rs869025191 |
ClinGen | rs869025191 |
ebi | rs869025191 |
HLI | rs869025191 |
Exac | rs869025191 |
Gnomad | rs869025191 |
Varsome | rs869025191 |
LitVar | rs869025191 |
Map | rs869025191 |
PheGenI | rs869025191 |
Biobank | rs869025191 |
1000 genomes | rs869025191 |
hgdp | rs869025191 |
ensembl | rs869025191 |
geneview | rs869025191 |
scholar | rs869025191 |
rs869025191 | |
pharmgkb | rs869025191 |
gwascentral | rs869025191 |
openSNP | rs869025191 |
23andMe | rs869025191 |
SNPshot | rs869025191 |
SNPdbe | rs869025191 |
MSV3d | rs869025191 |
GWAS Ctlg | rs869025191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025191(A;A) rs869025191(C;C) |
Alt | rs869025191(A;A) rs869025191(C;C) |
Reference | Rs869025191(G;G) |
Significance | Pathogenic |
Disease | Noonan syndrome Noonan syndrome 8 not provided |
Variation | info |
Gene | RIT1 |
CLNDBN | Noonan syndrome Noonan syndrome 8 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.155874530C>G; NC_000001.10:g.155874530C>T |
CLNSRC | |
CLNACC | RCV000218943.1, RCV000467706.1, RCV000207340.1, RCV000282691.1, |