rs551236750
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs551236750(C;T) |
Make rs551236750(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 12717760 |
Gene | CDKN1B, GPR19 |
is a | snp |
is | mentioned by |
dbSNP | rs551236750 |
dbSNP (classic) | rs551236750 |
ClinGen | rs551236750 |
ebi | rs551236750 |
HLI | rs551236750 |
Exac | rs551236750 |
Gnomad | rs551236750 |
Varsome | rs551236750 |
LitVar | rs551236750 |
Map | rs551236750 |
PheGenI | rs551236750 |
Biobank | rs551236750 |
1000 genomes | rs551236750 |
hgdp | rs551236750 |
ensembl | rs551236750 |
geneview | rs551236750 |
scholar | rs551236750 |
rs551236750 | |
pharmgkb | rs551236750 |
gwascentral | rs551236750 |
openSNP | rs551236750 |
23andMe | rs551236750 |
SNPshot | rs551236750 |
SNPdbe | rs551236750 |
MSV3d | rs551236750 |
GWAS Ctlg | rs551236750 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs551236750(T;T) |
Alt | rs551236750(T;T) |
Reference | Rs551236750(C;C) |
Significance | Pathogenic |
Disease | Primary hyperparathyroidism |
Variation | info |
Gene | LOC101929220 CDKN1B |
CLNDBN | Primary hyperparathyroidism |
Reversed | 0 |
HGVS | NC_000012.11:g.12870694C>T |
CLNSRC | |
CLNACC | RCV000210356.1, |