rs121913308
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913308(A;G) |
Make rs121913308(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 43114492 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs121913308 |
dbSNP (classic) | rs121913308 |
ClinGen | rs121913308 |
ebi | rs121913308 |
HLI | rs121913308 |
Exac | rs121913308 |
Gnomad | rs121913308 |
Varsome | rs121913308 |
LitVar | rs121913308 |
Map | rs121913308 |
PheGenI | rs121913308 |
Biobank | rs121913308 |
1000 genomes | rs121913308 |
hgdp | rs121913308 |
ensembl | rs121913308 |
geneview | rs121913308 |
scholar | rs121913308 |
rs121913308 | |
pharmgkb | rs121913308 |
gwascentral | rs121913308 |
openSNP | rs121913308 |
23andMe | rs121913308 |
SNPshot | rs121913308 |
SNPdbe | rs121913308 |
MSV3d | rs121913308 |
GWAS Ctlg | rs121913308 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913308(C;C) rs121913308(G;G) rs121913308(T;T) |
Alt | rs121913308(C;C) rs121913308(G;G) rs121913308(T;T) |
Reference | Rs121913308(A;A) |
Significance | Probable-Pathogenic |
Disease | MEN2 phenotype: Unknown Medullary thyroid carcinoma |
Variation | info |
Gene | RET |
CLNDBN | MEN2 phenotype: Unknown Medullary thyroid carcinoma |
Reversed | 0 |
HGVS | NC_000010.10:g.43609940A>C; NC_000010.10:g.43609940A>G; NC_000010.10:g.43609940A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000021813.1, RCV000021814.1, RCV000431229.1, RCV000021815.1, |