Have questions? Visit https://www.reddit.com/r/SNPedia

rs367643250

From SNPedia

metabolic syndrome (type-2 diabetes, coronary artery disease, obesity)
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 causative for obesity, coronary artery disease, type-2 diabetes?
(G;G) 0 common


Make rs367643250(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position39830443
GeneDYRK1B, MIR6719
is asnp
is mentioned by
dbSNPrs367643250
ebirs367643250
HLIrs367643250
Exacrs367643250
Varsomers367643250
Maprs367643250
PheGenIrs367643250
hapmaprs367643250
1000 genomesrs367643250
hgdprs367643250
ensemblrs367643250
gopubmedrs367643250
geneviewrs367643250
scholarrs367643250
googlers367643250
pharmgkbrs367643250
gwascentralrs367643250
openSNPrs367643250
23andMers367643250
23andMe allrs367643250
SNP Nexus

SNPshotrs367643250
SNPdbers367643250
MSV3drs367643250
GWAS Ctlgrs367643250
Max Magnitude4
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 24827035OA-icon.png]

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
CLNACC RCV000119261.2,