rs143795581
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs143795581(A;G) |
Make rs143795581(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43114596 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs143795581 |
dbSNP (classic) | rs143795581 |
ClinGen | rs143795581 |
ebi | rs143795581 |
HLI | rs143795581 |
Exac | rs143795581 |
Gnomad | rs143795581 |
Varsome | rs143795581 |
LitVar | rs143795581 |
Map | rs143795581 |
PheGenI | rs143795581 |
Biobank | rs143795581 |
1000 genomes | rs143795581 |
hgdp | rs143795581 |
ensembl | rs143795581 |
geneview | rs143795581 |
scholar | rs143795581 |
rs143795581 | |
pharmgkb | rs143795581 |
gwascentral | rs143795581 |
openSNP | rs143795581 |
23andMe | rs143795581 |
SNPshot | rs143795581 |
SNPdbe | rs143795581 |
MSV3d | rs143795581 |
GWAS Ctlg | rs143795581 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143795581(C;C) rs143795581(G;G) |
Alt | rs143795581(C;C) rs143795581(G;G) |
Reference | Rs143795581(A;A) |
Significance | Pathogenic |
Disease | MEN2A and Unclassified Medullary thyroid carcinoma |
Variation | info |
Gene | RET |
CLNDBN | MEN2A and Unclassified Medullary thyroid carcinoma |
Reversed | 0 |
HGVS | NC_000010.10:g.43610044A>G |
CLNSRC | ClinVar University of Washington |
CLNACC | RCV000021838.1, RCV000148771.1, |
[PMID 15858153] Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.