rs797044593
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797044593(A;G) |
Make rs797044593(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 66436759 |
Gene | MAP2K1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044593 |
dbSNP (classic) | rs797044593 |
ClinGen | rs797044593 |
ebi | rs797044593 |
HLI | rs797044593 |
Exac | rs797044593 |
Gnomad | rs797044593 |
Varsome | rs797044593 |
LitVar | rs797044593 |
Map | rs797044593 |
PheGenI | rs797044593 |
Biobank | rs797044593 |
1000 genomes | rs797044593 |
hgdp | rs797044593 |
ensembl | rs797044593 |
geneview | rs797044593 |
scholar | rs797044593 |
rs797044593 | |
pharmgkb | rs797044593 |
gwascentral | rs797044593 |
openSNP | rs797044593 |
23andMe | rs797044593 |
SNPshot | rs797044593 |
SNPdbe | rs797044593 |
MSV3d | rs797044593 |
GWAS Ctlg | rs797044593 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044593(G;G) |
Alt | rs797044593(G;G) |
Reference | Rs797044593(A;A) |
Significance | Pathogenic |
Disease | Cardiofaciocutaneous syndrome 3 |
Variation | info |
Gene | MAP2K1 |
CLNDBN | Cardiofaciocutaneous syndrome 3 |
Reversed | 0 |
HGVS | NC_000015.9:g.66729097A>G |
CLNSRC | |
CLNACC | RCV000192194.1, |