rs2505535
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs2505535(C;C) |
Make rs2505535(C;T) |
Make rs2505535(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 43097595 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs2505535 |
dbSNP (classic) | rs2505535 |
ClinGen | rs2505535 |
ebi | rs2505535 |
HLI | rs2505535 |
Exac | rs2505535 |
Gnomad | rs2505535 |
Varsome | rs2505535 |
LitVar | rs2505535 |
Map | rs2505535 |
PheGenI | rs2505535 |
Biobank | rs2505535 |
1000 genomes | rs2505535 |
hgdp | rs2505535 |
ensembl | rs2505535 |
geneview | rs2505535 |
scholar | rs2505535 |
rs2505535 | |
pharmgkb | rs2505535 |
gwascentral | rs2505535 |
openSNP | rs2505535 |
23andMe | rs2505535 |
SNPshot | rs2505535 |
SNPdbe | rs2505535 |
MSV3d | rs2505535 |
GWAS Ctlg | rs2505535 |
GMAF | 0.2576 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 18612588] the C allele of rs2505535 would appear to represent a protecting allele for the Chinese population
[PMID 15759212] Identifying candidate Hirschsprung disease-associated RET variants.
[PMID 20532249] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.