rs397517163
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397517163(C;C) |
Make rs397517163(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 38996981 |
Gene | SOS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397517163 |
dbSNP (classic) | rs397517163 |
ClinGen | rs397517163 |
ebi | rs397517163 |
HLI | rs397517163 |
Exac | rs397517163 |
Gnomad | rs397517163 |
Varsome | rs397517163 |
LitVar | rs397517163 |
Map | rs397517163 |
PheGenI | rs397517163 |
Biobank | rs397517163 |
1000 genomes | rs397517163 |
hgdp | rs397517163 |
ensembl | rs397517163 |
geneview | rs397517163 |
scholar | rs397517163 |
rs397517163 | |
pharmgkb | rs397517163 |
gwascentral | rs397517163 |
openSNP | rs397517163 |
23andMe | rs397517163 |
SNPshot | rs397517163 |
SNPdbe | rs397517163 |
MSV3d | rs397517163 |
GWAS Ctlg | rs397517163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517163(C;C) |
Alt | rs397517163(C;C) |
Reference | Rs397517163(T;T) |
Significance | Probable-Pathogenic |
Disease | Noonan syndrome |
Variation | info |
Gene | SOS1 |
CLNDBN | Noonan syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.39224122A>G |
CLNSRC | ClinVar |
CLNACC | RCV000038544.2, |