rs869312166
From SNPedia
Merged into | rs774454456 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAGA;GAGA) | 0 | common in clinvar |
Make rs869312166(-;-) |
Make rs869312166(-;AGAG) |
Make rs869312166(AGAG;AGAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 12717811 |
Gene | CDKN1B, GPR19 |
is a | snp |
is | mentioned by |
dbSNP | rs869312166 |
dbSNP (classic) | rs869312166 |
ClinGen | rs869312166 |
ebi | rs869312166 |
HLI | rs869312166 |
Exac | rs869312166 |
Gnomad | rs869312166 |
Varsome | rs869312166 |
LitVar | rs869312166 |
Map | rs869312166 |
PheGenI | rs869312166 |
Biobank | rs869312166 |
1000 genomes | rs869312166 |
hgdp | rs869312166 |
ensembl | rs869312166 |
geneview | rs869312166 |
scholar | rs869312166 |
rs869312166 | |
pharmgkb | rs869312166 |
gwascentral | rs869312166 |
openSNP | rs869312166 |
23andMe | rs869312166 |
SNPshot | rs869312166 |
SNPdbe | rs869312166 |
MSV3d | rs869312166 |
GWAS Ctlg | rs869312166 |
Status | Merged into rs774454456 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs869312166(GAGA;GAGA) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia Primary hyperparathyroidism |
Variation | info |
Gene | LOC101929220 CDKN1B |
CLNDBN | Multiple endocrine neoplasia, type 4 Primary hyperparathyroidism |
Reversed | 0 |
HGVS | NC_000012.11:g.12870745_12870748delAGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162206.3, RCV000210358.1, |