rs367643250
From SNPedia
metabolic syndrome (type-2 diabetes, coronary artery disease, obesity) |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4 | causative for obesity, coronary artery disease, type-2 diabetes? |
(G;G) | 0 | common |
Make rs367643250(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 39830443 |
Gene | DYRK1B, MIR6719 |
is a | snp |
is | mentioned by |
dbSNP | rs367643250 |
dbSNP (classic) | rs367643250 |
ClinGen | rs367643250 |
ebi | rs367643250 |
HLI | rs367643250 |
Exac | rs367643250 |
Gnomad | rs367643250 |
Varsome | rs367643250 |
LitVar | rs367643250 |
Map | rs367643250 |
PheGenI | rs367643250 |
Biobank | rs367643250 |
1000 genomes | rs367643250 |
hgdp | rs367643250 |
ensembl | rs367643250 |
geneview | rs367643250 |
scholar | rs367643250 |
rs367643250 | |
pharmgkb | rs367643250 |
gwascentral | rs367643250 |
openSNP | rs367643250 |
23andMe | rs367643250 |
SNPshot | rs367643250 |
SNPdbe | rs367643250 |
MSV3d | rs367643250 |
GWAS Ctlg | rs367643250 |
Max Magnitude | 4 |
rs367643250, aka R102C, is a SNP in the DYRK1B gene on chromosome 19.
A study of three large families with coinheritance of early-onset coronary artery disease, central obesity, hypertension, and type-2 diabetes led to the conclusion that the responsible mutation was a C>T change (on the reverse strand) for this SNP, leading to a missense change from an arginine (R) at amino acid position 102 to a cysteine (C). On the forward strand represented by rs367643250 this means a change from a G>A.[PMID 24827035]
ClinVar | |
---|---|
Risk | rs367643250(A;A) |
Alt | rs367643250(A;A) |
Reference | Rs367643250(G;G) |
Significance | Pathogenic |
Disease | Abdominal obesity-metabolic syndrome 3 |
Variation | info |
Gene | MIR6719 DYRK1B |
CLNDBN | Abdominal obesity-metabolic syndrome 3 |
Reversed | 0 |
HGVS | NC_000019.9:g.40321083G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000119261.3, |