TMC1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | transmembrane channel-like 1 |
| EntrezGene | 117531 |
| PheGenI | 117531 |
| VariationViewer | 117531 |
| ClinVar | TMC1 |
| GeneCards | TMC1 |
| dbSNP | 117531 |
| Diseases | TMC1 |
| SADR | 117531 |
| HugeNav | 117531 |
| wikipedia | TMC1 |
| TMC1 | |
| gopubmed | TMC1 |
| EVS | TMC1 |
| HEFalMp | TMC1 |
| MyGene2 | TMC1 |
| 23andMe | TMC1 |
| UniProt | Q8TDI8 |
| Ensembl | ENSG00000165091 |
| OMIM | 606706 |
| # SNPs | 43 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5003571 | |||
| i5003572 | |||
| rs1169090943 | 3 | 72,648,665 | |
| rs1172357346 | 3 | 72,751,896 | |
| rs121908072 | 5 | 72,816,161 | |
| rs121908073 | 3 | 72,694,578 | |
| rs121908074 | 3 | 72,821,038 | |
| rs121908076 | 3 | 72,792,329 | |
| rs1290684098 | 3 | 72,820,866 | |
| rs1300268466 | 3 | 72,688,758 | |
| rs138527651 | 3 | 72,821,017 | |
| rs1387886173 | 5 | 72,792,353 | |
| rs1401880558 | 3 | 72,789,264 | |
| rs1448901281 | 3 | 72,826,895 | |
| rs151001642 | 3 | 72,789,258 | |
| rs1796993 | 0 | 72,700,522 | |
| rs199560971 | 3 | 72,751,859 | |
| rs200171616 | 3 | 72,792,320 | |
| rs367924428 | 3 | 72,789,207 | |
| rs368084452 | 3 | 72,820,842 | |
| rs370088722 | 0 | 72,754,817 | |
| rs370898981 | 3 | 72,816,213 | |
| rs372710475 | 3 | 72,791,994 | |
| rs727503483 | 3 | 72,792,318 | |
| rs727504554 | 3 | 72,688,714 | |
| rs730880359 | 3 | 72,694,697 | |
| rs749491943 | 3 | 72,789,234 | |
| rs753687760 | 0 | 72,751,903 | |
| rs756960425 | 3 | 72,751,910 | |
| rs757327146 | 3 | 72,789,236 | |
| rs761261855 | 0 | 72,816,175 | |
| rs772640673 | 3 | 72,789,259 | |
| rs773851192 | 3 | 72,789,302 | |
| rs775428246 | 5 | 72,694,715 | |
| rs777777359 | 3 | 72,820,888 | |
| rs781747541 | 3 | 72,751,938 | |
| rs786201027 | 5 | 72,791,914 | |
| rs876657727 | 3 | 72,791,897 | |
| rs876657728 | 3 | 72,805,491 | |
| rs876657729 | 3 | 72,805,492 | |
| rs878853229 | 3 | 72,648,663 | |
| rs878853230 | 3 | 72,694,707 | |
| rs878853240 | 0 | 72,789,303 |
Associated with deafness [PMID 11850618]:
- DFNB7/11 (autosomal recessive deafness-7; congenital non-syndromic severe to profound deafness), and,
- DFNA36 (autosomal dominant deafness-36; primarily progressive loss of hearing)
The two tables below are based on various sources including ClinVar, the Deafness Variation Database, and the TMC1 LOVD:
| rsid | 23andMe term | synonyms (c. or p.) | OMIM | On chip? |
|---|---|---|---|---|
| rs775428246 | c.236+1G>C | |||
| rs786201027 | c.1253T>A | 606706.0007 | Ancestry v2c, Ancestry v2d | |
| rs1387886173 | c.1566+1G>A | |||
| rs121908072 | c.1714G>C | 606706.0004 | ||
| rs121908072 | c.1714G>A | 606706.0001 |
