rs777354267
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs777354267(C;T) |
Make rs777354267(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 12718045 |
Gene | CDKN1B, GPR19 |
is a | snp |
is | mentioned by |
dbSNP | rs777354267 |
dbSNP (classic) | rs777354267 |
ClinGen | rs777354267 |
ebi | rs777354267 |
HLI | rs777354267 |
Exac | rs777354267 |
Gnomad | rs777354267 |
Varsome | rs777354267 |
LitVar | rs777354267 |
Map | rs777354267 |
PheGenI | rs777354267 |
Biobank | rs777354267 |
1000 genomes | rs777354267 |
hgdp | rs777354267 |
ensembl | rs777354267 |
geneview | rs777354267 |
scholar | rs777354267 |
rs777354267 | |
pharmgkb | rs777354267 |
gwascentral | rs777354267 |
openSNP | rs777354267 |
23andMe | rs777354267 |
SNPshot | rs777354267 |
SNPdbe | rs777354267 |
MSV3d | rs777354267 |
GWAS Ctlg | rs777354267 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777354267(T;T) |
Alt | rs777354267(T;T) |
Reference | Rs777354267(C;C) |
Significance | Pathogenic |
Disease | Multiple endocrine neoplasia |
Variation | info |
Gene | LOC101929220 CDKN1B |
CLNDBN | Multiple endocrine neoplasia, type 4 |
Reversed | 0 |
HGVS | NC_000012.11:g.12870979C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000162207.4, |