rs672601334
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs672601334(C;G) |
Make rs672601334(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 155904798 |
Gene | RIT1 |
is a | snp |
is | mentioned by |
dbSNP | rs672601334 |
dbSNP (classic) | rs672601334 |
ClinGen | rs672601334 |
ebi | rs672601334 |
HLI | rs672601334 |
Exac | rs672601334 |
Gnomad | rs672601334 |
Varsome | rs672601334 |
LitVar | rs672601334 |
Map | rs672601334 |
PheGenI | rs672601334 |
Biobank | rs672601334 |
1000 genomes | rs672601334 |
hgdp | rs672601334 |
ensembl | rs672601334 |
geneview | rs672601334 |
scholar | rs672601334 |
rs672601334 | |
pharmgkb | rs672601334 |
gwascentral | rs672601334 |
openSNP | rs672601334 |
23andMe | rs672601334 |
SNPshot | rs672601334 |
SNPdbe | rs672601334 |
MSV3d | rs672601334 |
GWAS Ctlg | rs672601334 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601334(G;G) |
Alt | rs672601334(G;G) |
Reference | Rs672601334(C;C) |
Significance | Pathogenic |
Disease | Noonan syndrome 8 not provided Noonan syndrome |
Variation | info |
Gene | RIT1 |
CLNDBN | Noonan syndrome 8 not provided Noonan syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.155874589G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054404.3, RCV000159100.3, RCV000207349.2, |