rs121908596
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908596(G;T) |
Make rs121908596(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 66436837 |
Gene | MAP2K1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908596 |
dbSNP (classic) | rs121908596 |
ClinGen | rs121908596 |
ebi | rs121908596 |
HLI | rs121908596 |
Exac | rs121908596 |
Gnomad | rs121908596 |
Varsome | rs121908596 |
LitVar | rs121908596 |
Map | rs121908596 |
PheGenI | rs121908596 |
Biobank | rs121908596 |
1000 genomes | rs121908596 |
hgdp | rs121908596 |
ensembl | rs121908596 |
geneview | rs121908596 |
scholar | rs121908596 |
rs121908596 | |
pharmgkb | rs121908596 |
gwascentral | rs121908596 |
openSNP | rs121908596 |
23andMe | rs121908596 |
SNPshot | rs121908596 |
SNPdbe | rs121908596 |
MSV3d | rs121908596 |
GWAS Ctlg | rs121908596 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908596(A;A) rs121908596(T;T) |
Alt | rs121908596(A;A) rs121908596(T;T) |
Reference | Rs121908596(G;G) |
Significance | Pathogenic |
Disease | Malignant melanoma Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome |
Variation | info |
Gene | MAP2K1 |
CLNDBN | Malignant melanoma Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.66729175G>A; NC_000015.9:g.66729175G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000439613.1, RCV000043673.19, RCV000207493.1, RCV000211725.1, |