rs79890926
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5.1 | Multiple Endocrine Neoplasia IIA |
Make rs79890926(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43113656 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs79890926 |
dbSNP (classic) | rs79890926 |
ClinGen | rs79890926 |
ebi | rs79890926 |
HLI | rs79890926 |
Exac | rs79890926 |
Gnomad | rs79890926 |
Varsome | rs79890926 |
LitVar | rs79890926 |
Map | rs79890926 |
PheGenI | rs79890926 |
Biobank | rs79890926 |
1000 genomes | rs79890926 |
hgdp | rs79890926 |
ensembl | rs79890926 |
geneview | rs79890926 |
scholar | rs79890926 |
rs79890926 | |
pharmgkb | rs79890926 |
gwascentral | rs79890926 |
openSNP | rs79890926 |
23andMe | rs79890926 |
SNPshot | rs79890926 |
SNPdbe | rs79890926 |
MSV3d | rs79890926 |
GWAS Ctlg | rs79890926 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs79890926(G;G) rs79890926(T;T) |
Alt | rs79890926(G;G) rs79890926(T;T) |
Reference | Rs79890926(C;C) |
Significance | Pathogenic |
Disease | MULTIPLE ENDOCRINE NEOPLASIA MEN2A and Unclassified |
Variation | info |
Gene | RET |
CLNDBN | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE MEN2A and Unclassified |
Reversed | 0 |
HGVS | NC_000010.10:g.43609104C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014959.26, RCV000021789.1, |