rs794728657
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAG) | 5.8 | Multiple Endocrine Neoplasia Type 1 |
(AAG;AAG) | 0 | common in clinvar |
Make rs794728657(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 64809750 |
Gene | MEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728657 |
dbSNP (classic) | rs794728657 |
ClinGen | rs794728657 |
ebi | rs794728657 |
HLI | rs794728657 |
Exac | rs794728657 |
Gnomad | rs794728657 |
Varsome | rs794728657 |
LitVar | rs794728657 |
Map | rs794728657 |
PheGenI | rs794728657 |
Biobank | rs794728657 |
1000 genomes | rs794728657 |
hgdp | rs794728657 |
ensembl | rs794728657 |
geneview | rs794728657 |
scholar | rs794728657 |
rs794728657 | |
pharmgkb | rs794728657 |
gwascentral | rs794728657 |
openSNP | rs794728657 |
23andMe | rs794728657 |
SNPshot | rs794728657 |
SNPdbe | rs794728657 |
MSV3d | rs794728657 |
GWAS Ctlg | rs794728657 |
Max Magnitude | 5.8 |
ClinVar | |
---|---|
Risk | rs794728657(-;-) |
Alt | rs794728657(-;-) |
Reference | Rs794728657(AAG;AAG) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MEN1 |
CLNDBN | Multiple endocrine neoplasia, type 1 not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.64577222_64577224delCTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018160.2, RCV000182460.2, RCV000491280.1, |