rs730880511
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880511(G;T) |
Make rs730880511(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 4101032 |
Gene | MAP2K2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880511 |
dbSNP (classic) | rs730880511 |
ClinGen | rs730880511 |
ebi | rs730880511 |
HLI | rs730880511 |
Exac | rs730880511 |
Gnomad | rs730880511 |
Varsome | rs730880511 |
LitVar | rs730880511 |
Map | rs730880511 |
PheGenI | rs730880511 |
Biobank | rs730880511 |
1000 genomes | rs730880511 |
hgdp | rs730880511 |
ensembl | rs730880511 |
geneview | rs730880511 |
scholar | rs730880511 |
rs730880511 | |
pharmgkb | rs730880511 |
gwascentral | rs730880511 |
openSNP | rs730880511 |
23andMe | rs730880511 |
SNPshot | rs730880511 |
SNPdbe | rs730880511 |
MSV3d | rs730880511 |
GWAS Ctlg | rs730880511 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880511(A;A) rs730880511(T;T) |
Alt | rs730880511(A;A) rs730880511(T;T) |
Reference | Rs730880511(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Rasopathy |
Variation | info |
Gene | MAP2K2 |
CLNDBN | not provided Rasopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.4101030C>A |
CLNSRC | |
CLNACC | RCV000158025.1, RCV000466246.1, |