rs121913381
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 7 | Pancreatic cancer/Melanoma Syndrome |
Make rs121913381(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 21971037 |
Gene | CDKN2A |
is a | snp |
is | mentioned by |
dbSNP | rs121913381 |
dbSNP (classic) | rs121913381 |
ClinGen | rs121913381 |
ebi | rs121913381 |
HLI | rs121913381 |
Exac | rs121913381 |
Gnomad | rs121913381 |
Varsome | rs121913381 |
LitVar | rs121913381 |
Map | rs121913381 |
PheGenI | rs121913381 |
Biobank | rs121913381 |
1000 genomes | rs121913381 |
hgdp | rs121913381 |
ensembl | rs121913381 |
geneview | rs121913381 |
scholar | rs121913381 |
rs121913381 | |
pharmgkb | rs121913381 |
gwascentral | rs121913381 |
openSNP | rs121913381 |
23andMe | rs121913381 |
SNPshot | rs121913381 |
SNPdbe | rs121913381 |
MSV3d | rs121913381 |
GWAS Ctlg | rs121913381 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs121913381(A;A) rs121913381(T;T) |
Alt | rs121913381(A;A) rs121913381(T;T) |
Reference | Rs121913381(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Neoplasm Hereditary cutaneous melanoma not specified |
Variation | info |
Gene | CDKN2A |
CLNDBN | Hereditary cancer-predisposing syndrome Neoplasm Hereditary cutaneous melanoma not specified |
Reversed | 1 |
HGVS | NC_000009.11:g.21971036C>A; NC_000009.11:g.21971036C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000160422.5, RCV000425594.1, RCV000198618.1, RCV000482818.1, |