rs80356649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(AG;AG) | 0 | common in clinvar |
Make rs80356649(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 193142016 |
Gene | CDC73 |
is a | snp |
is | mentioned by |
dbSNP | rs80356649 |
dbSNP (classic) | rs80356649 |
ClinGen | rs80356649 |
ebi | rs80356649 |
HLI | rs80356649 |
Exac | rs80356649 |
Gnomad | rs80356649 |
Varsome | rs80356649 |
LitVar | rs80356649 |
Map | rs80356649 |
PheGenI | rs80356649 |
Biobank | rs80356649 |
1000 genomes | rs80356649 |
hgdp | rs80356649 |
ensembl | rs80356649 |
geneview | rs80356649 |
scholar | rs80356649 |
rs80356649 | |
pharmgkb | rs80356649 |
gwascentral | rs80356649 |
openSNP | rs80356649 |
23andMe | rs80356649 |
SNPshot | rs80356649 |
SNPdbe | rs80356649 |
MSV3d | rs80356649 |
GWAS Ctlg | rs80356649 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs80356649(AG;AG) |
Alt | Rs80356649(AG;AG) |
Reference | Rs80356649(-;-) |
Significance | Pathogenic |
Disease | Hyperparathyroidism 2 Parathyroid carcinoma Hyperparathyroidism 1 |
Variation | info |
Gene | CDC73 |
CLNDBN | Hyperparathyroidism 2 Parathyroid carcinoma Hyperparathyroidism 1 |
Reversed | 0 |
HGVS | NC_000001.10:g.193111146_193111147insAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003427.3, RCV000003428.4, RCV000003429.3, |