rs397517180
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397517180(G;T) |
Make rs397517180(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 39035440 |
Gene | SOS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397517180 |
dbSNP (classic) | rs397517180 |
ClinGen | rs397517180 |
ebi | rs397517180 |
HLI | rs397517180 |
Exac | rs397517180 |
Gnomad | rs397517180 |
Varsome | rs397517180 |
LitVar | rs397517180 |
Map | rs397517180 |
PheGenI | rs397517180 |
Biobank | rs397517180 |
1000 genomes | rs397517180 |
hgdp | rs397517180 |
ensembl | rs397517180 |
geneview | rs397517180 |
scholar | rs397517180 |
rs397517180 | |
pharmgkb | rs397517180 |
gwascentral | rs397517180 |
openSNP | rs397517180 |
23andMe | rs397517180 |
SNPshot | rs397517180 |
SNPdbe | rs397517180 |
MSV3d | rs397517180 |
GWAS Ctlg | rs397517180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517180(T;T) |
Alt | rs397517180(T;T) |
Reference | Rs397517180(G;G) |
Significance | Pathogenic |
Disease | Noonan syndrome not provided |
Variation | info |
Gene | SOS1 |
CLNDBN | Noonan syndrome not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.39262581C>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000038575.2, RCV000255002.1, |