rs2075912
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs2075912(C;C) |
Make rs2075912(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 43126769 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs2075912 |
dbSNP (classic) | rs2075912 |
ClinGen | rs2075912 |
ebi | rs2075912 |
HLI | rs2075912 |
Exac | rs2075912 |
Gnomad | rs2075912 |
Varsome | rs2075912 |
LitVar | rs2075912 |
Map | rs2075912 |
PheGenI | rs2075912 |
Biobank | rs2075912 |
1000 genomes | rs2075912 |
hgdp | rs2075912 |
ensembl | rs2075912 |
geneview | rs2075912 |
scholar | rs2075912 |
rs2075912 | |
pharmgkb | rs2075912 |
gwascentral | rs2075912 |
openSNP | rs2075912 |
23andMe | rs2075912 |
SNPshot | rs2075912 |
SNPdbe | rs2075912 |
MSV3d | rs2075912 |
GWAS Ctlg | rs2075912 |
GMAF | 0.2392 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China
ClinVar | |
---|---|
Risk | rs2075912(C;C) |
Alt | rs2075912(C;C) |
Reference | Rs2075912(T;T) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | RET |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.43622217T>C |
CLNSRC | |
CLNACC | RCV000151742.2, |
[PMID 27798940] Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.