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 |