rs774454456
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAGA;GAGA) | 0 | common in clinvar |
Make rs774454456(-;-) |
Make rs774454456(-;GAGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 12717808 |
Gene | CDKN1B, GPR19 |
is a | snp |
is | mentioned by |
dbSNP | rs774454456 |
dbSNP (classic) | rs774454456 |
ClinGen | rs774454456 |
ebi | rs774454456 |
HLI | rs774454456 |
Exac | rs774454456 |
Gnomad | rs774454456 |
Varsome | rs774454456 |
LitVar | rs774454456 |
Map | rs774454456 |
PheGenI | rs774454456 |
Biobank | rs774454456 |
1000 genomes | rs774454456 |
hgdp | rs774454456 |
ensembl | rs774454456 |
geneview | rs774454456 |
scholar | rs774454456 |
rs774454456 | |
pharmgkb | rs774454456 |
gwascentral | rs774454456 |
openSNP | rs774454456 |
23andMe | rs774454456 |
SNPshot | rs774454456 |
SNPdbe | rs774454456 |
MSV3d | rs774454456 |
GWAS Ctlg | rs774454456 |
Merged from | Rs869312166 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774454456(-;-) rs774454456(AGAG;AGAG) |
Alt | rs774454456(-;-) rs774454456(AGAG;AGAG) |
Reference | Rs774454456(GAGA;GAGA) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia Primary hyperparathyroidism Multiple endocrine neoplasia |
Variation | info |
Gene | LOC101929220 CDKN1B |
CLNDBN | Multiple endocrine neoplasia, type 4 Primary hyperparathyroidism Multiple endocrine neoplasia |
Reversed | 0 |
HGVS | NC_000012.11:g.12870745_12870748delAGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162206.3, RCV000210358.1, RCV000354456.1, |