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rs61736969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61736969(C;C)
Make rs61736969(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position75324385
GeneTBC1D4
is asnp
is mentioned by
dbSNPrs61736969
ebirs61736969
HLIrs61736969
Exacrs61736969
Varsomers61736969
Maprs61736969
PheGenIrs61736969
hapmaprs61736969
1000 genomesrs61736969
hgdprs61736969
ensemblrs61736969
gopubmedrs61736969
geneviewrs61736969
scholarrs61736969
googlers61736969
pharmgkbrs61736969
gwascentralrs61736969
openSNPrs61736969
23andMers61736969
23andMe allrs61736969
SNP Nexus

SNPshotrs61736969
SNPdbers61736969
MSV3drs61736969
GWAS Ctlgrs61736969
Max Magnitude0
Study "A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes" found association with higher 2 hour plasma glucose (β = 3.8 mmol l−1, P = 2.5 × 10−35 homozygous) and serum insulin (β = 165 pmol l−1, P = 1.5 × 10−20 homozygous) and subset of diabetes that features deterioration of postprandial glucose homeostasis among Greenlandic population. Each minor allele of resulting p.Arg684Ter (Triallelic, stop gained allele A, MAF 17% in study) conferred increasingly lower levels of messenger RNA and protein levels of the long isoform of TBC1D4 needed in skeletal muscle, and lower muscle protein levels of the glucose transporter GLUT4.

rs7330796, rs1062087, rs2297206 are in close linkage disequilibrium with this SNP[1], however they're much more common than this causal variant, which has so far been only found in those of Greenlandic descent. A genotyping panel with rs7330796 was used for discovery of this variant.

ClinVar
Risk rs61736969(A,C;A,C)
Alt rs61736969(A,C;A,C)
Reference rs61736969(G;G)
Significance Pathogenic
Disease Diabetes mellitus not specified
Variation info
Gene TBC1D4
CLNDBN Diabetes mellitus, noninsulin-dependent, 5 not specified
Reversed 0
HGVS NC_000013.10:g.75898521G>A; NC_000013.10:g.75898521G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144945.3, RCV000118586.2,