rs387906800
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906800(A;A) |
Make rs387906800(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 4110564 |
Gene | MAP2K2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906800 |
dbSNP (classic) | rs387906800 |
ClinGen | rs387906800 |
ebi | rs387906800 |
HLI | rs387906800 |
Exac | rs387906800 |
Gnomad | rs387906800 |
Varsome | rs387906800 |
LitVar | rs387906800 |
Map | rs387906800 |
PheGenI | rs387906800 |
Biobank | rs387906800 |
1000 genomes | rs387906800 |
hgdp | rs387906800 |
ensembl | rs387906800 |
geneview | rs387906800 |
scholar | rs387906800 |
rs387906800 | |
pharmgkb | rs387906800 |
gwascentral | rs387906800 |
openSNP | rs387906800 |
23andMe | rs387906800 |
SNPshot | rs387906800 |
SNPdbe | rs387906800 |
MSV3d | rs387906800 |
GWAS Ctlg | rs387906800 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906800(A;A) |
Alt | rs387906800(A;A) |
Reference | Rs387906800(G;G) |
Significance | Pathogenic |
Disease | Cardiofaciocutaneous syndrome 4 Rasopathy not provided |
Variation | info |
Gene | MAP2K2 |
CLNDBN | Cardiofaciocutaneous syndrome 4 Rasopathy not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.4110562C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023088.4, RCV000149835.1, RCV000413893.1, |