rs367643250

metabolic syndrome (type-2 diabetes, coronary artery disease, obesity)

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
google	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,