rs730880508
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs730880508(GC;TT) |
Make rs730880508(TT;TT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 66436837 |
Gene | MAP2K1 |
is a | snp |
is | mentioned by |
dbSNP | rs730880508 |
dbSNP (classic) | rs730880508 |
ClinGen | rs730880508 |
ebi | rs730880508 |
HLI | rs730880508 |
Exac | rs730880508 |
Gnomad | rs730880508 |
Varsome | rs730880508 |
LitVar | rs730880508 |
Map | rs730880508 |
PheGenI | rs730880508 |
Biobank | rs730880508 |
1000 genomes | rs730880508 |
hgdp | rs730880508 |
ensembl | rs730880508 |
geneview | rs730880508 |
scholar | rs730880508 |
rs730880508 | |
pharmgkb | rs730880508 |
gwascentral | rs730880508 |
openSNP | rs730880508 |
23andMe | rs730880508 |
SNPshot | rs730880508 |
SNPdbe | rs730880508 |
MSV3d | rs730880508 |
GWAS Ctlg | rs730880508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880508(TT;TT) |
Alt | rs730880508(TT;TT) |
Reference | Rs730880508(GC;GC) |
Significance | Pathogenic |
Disease | Rasopathy |
Variation | info |
Gene | MAP2K1 |
CLNDBN | Rasopathy |
Reversed | 0 |
HGVS | NC_000015.9:g.66729175_66729176delGCinsTT |
CLNSRC | |
CLNACC | RCV000158013.1, |