rs61736969
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61736969(C;C) |
| Make rs61736969(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 75324385 |
| Gene | TBC1D4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61736969 |
| dbSNP (classic) | rs61736969 |
| ClinGen | rs61736969 |
| ebi | rs61736969 |
| HLI | rs61736969 |
| Exac | rs61736969 |
| Gnomad | rs61736969 |
| Varsome | rs61736969 |
| LitVar | rs61736969 |
| Map | rs61736969 |
| PheGenI | rs61736969 |
| Biobank | rs61736969 |
| 1000 genomes | rs61736969 |
| hgdp | rs61736969 |
| ensembl | rs61736969 |
| geneview | rs61736969 |
| scholar | rs61736969 |
| rs61736969 | |
| pharmgkb | rs61736969 |
| gwascentral | rs61736969 |
| openSNP | rs61736969 |
| 23andMe | rs61736969 |
| SNPshot | rs61736969 |
| SNPdbe | rs61736969 |
| MSV3d | rs61736969 |
| GWAS Ctlg | rs61736969 |
| Max Magnitude | 0 |
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;A) rs61736969(C;C) |
| Alt | rs61736969(A;A) rs61736969(C;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, |
