rs267607011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607011(C;G) |
Make rs267607011(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43120184 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs267607011 |
dbSNP (classic) | rs267607011 |
ClinGen | rs267607011 |
ebi | rs267607011 |
HLI | rs267607011 |
Exac | rs267607011 |
Gnomad | rs267607011 |
Varsome | rs267607011 |
LitVar | rs267607011 |
Map | rs267607011 |
PheGenI | rs267607011 |
Biobank | rs267607011 |
1000 genomes | rs267607011 |
hgdp | rs267607011 |
ensembl | rs267607011 |
geneview | rs267607011 |
scholar | rs267607011 |
rs267607011 | |
pharmgkb | rs267607011 |
gwascentral | rs267607011 |
openSNP | rs267607011 |
23andMe | rs267607011 |
SNPshot | rs267607011 |
SNPdbe | rs267607011 |
MSV3d | rs267607011 |
GWAS Ctlg | rs267607011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607011(G;G) rs267607011(T;T) |
Alt | rs267607011(G;G) rs267607011(T;T) |
Reference | Rs267607011(C;C) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia MEN2 phenotype: Unknown MEN2 phenotype: Unclassified |
Variation | info |
Gene | RET |
CLNDBN | Multiple endocrine neoplasia, type 2b MEN2 phenotype: Unknown MEN2 phenotype: Unclassified |
Reversed | 0 |
HGVS | NC_000010.10:g.43615632C>G; NC_000010.10:g.43615632C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014972.26, RCV000021877.1, RCV000021878.1, |
[PMID 17895320] RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.