rs2506004
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs2506004(G;G) |
Make rs2506004(G;T) |
Make rs2506004(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 43086825 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs2506004 |
dbSNP (classic) | rs2506004 |
ClinGen | rs2506004 |
ebi | rs2506004 |
HLI | rs2506004 |
Exac | rs2506004 |
Gnomad | rs2506004 |
Varsome | rs2506004 |
LitVar | rs2506004 |
Map | rs2506004 |
PheGenI | rs2506004 |
Biobank | rs2506004 |
1000 genomes | rs2506004 |
hgdp | rs2506004 |
ensembl | rs2506004 |
geneview | rs2506004 |
scholar | rs2506004 |
rs2506004 | |
pharmgkb | rs2506004 |
gwascentral | rs2506004 |
openSNP | rs2506004 |
23andMe | rs2506004 |
SNPshot | rs2506004 |
SNPdbe | rs2506004 |
MSV3d | rs2506004 |
GWAS Ctlg | rs2506004 |
GMAF | 0.2599 |
Max Magnitude | 0 |
[PMID 22325379] Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African population
[PMID 15759212] Identifying candidate Hirschsprung disease-associated RET variants.
[PMID 20977903] Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.
[PMID 24897126] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
[PMID 24528961] Tissue specific somatic mutations and aganglionosis in Hirschsprung's disease