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TMC1

From SNPedia
is agene
is mentioned by
Full nametransmembrane channel-like 1
EntrezGene117531
PheGenI117531
VariationViewer117531
ClinVarTMC1
GeneCardsTMC1
dbSNP117531
DiseasesTMC1
SADR117531
HugeNav117531
wikipediaTMC1
googleTMC1
gopubmedTMC1
EVSTMC1
HEFalMpTMC1
MyGene2TMC1
23andMeTMC1
UniProtQ8TDI8
EnsemblENSG00000165091
OMIM606706
# SNPs45
 Max MagnitudeChromosome positionSummary
i5003571
i5003572
rs1169090943372,648,665
rs1172357346372,751,896
rs121908072072,816,161
rs121908073372,694,578
rs121908074372,821,038
rs121908076072,792,329
rs1290684098372,820,866
rs1300268466372,688,758
rs13852765172,821,017
rs1387886173572,792,353
rs1401880558372,789,264
rs1448901281372,826,895
rs151001642072,789,258
rs1796993072,700,522
rs199560971372,751,859
rs200171616372,792,320
rs367924428072,789,207
rs368084452372,820,842
rs370088722072,754,817
rs370898981072,816,213
rs372710475072,791,994
rs727503483072,792,318
rs727504554072,688,714
rs730880359072,694,697
rs749491943372,789,234
rs753687760372,751,903
rs756960425372,751,910
rs757327146372,789,236
rs761261855372,816,175
rs772640673372,789,259
rs773851192372,789,302
rs775428246572,694,715
rs777777359072,820,888
rs781747541372,751,938
rs786201027072,791,914
rs876657727072,791,897
rs876657728072,805,491
rs876657729072,805,492
rs878853229072,648,663
rs878853230072,694,707
rs878853240072,789,303

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:

DFNB7/11 (recessively inherited)
rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs878853229 c.15dupA
rs1169090943 c.16+1G>T
rs727504554 c.22delA Ancestry v2c
rs1300268466 c.64+2T>A
rs1300268466 c.64+2T>C
rs121908073 c.100C>T 606706.0002 Ancestry v2, Ancestry v2c
rs730880359 c.215_219dupGGAGG Ancestry v2, 23andMe v5, Ancestry v2c
rs878853230 c.229delA
rs775428246 c.236+1G>A
rs199560971 c.545G>A
rs1172357346 c.582G>A
rs753687760 c.589G>A
rs756960425 c.596A>T
rs781747541 c.624C>A
rs370088722 c.674C>T Ancestry v2, 23andMe v5, Ancestry v2c
rs367924428 c.1114G>A Ancestry v2c
rs749491943 c.1141T>A
rs757327146 c.1143C>G
rs151001642 c.1165C>T Ancestry v2, 23andMe v5, Ancestry v2c
rs772640673 c.1166G>A
rs1401880558 c.1171C>T
rs773851192 c.1209G>A
rs876657727 c.1236delT
rs372710475 c.1333C>T Ancestry v2, 23andMe v5, Ancestry v2c
rs727503483 c.1532C>T Ancestry v2
rs200171616 c.1534C>T
rs121908076 c.1543T>C 606706.0006 Ancestry v2, Ancestry v2c
rs876657728 c.1676G>A Ancestry v2c
rs876657729 c.1677G>A Ancestry v2c
rs761261855 c.1728C>G
rs370898981 c.1763+3A>G Ancestry v2, 23andMe v5, Ancestry v2c
rs368084452 c.1764G>A
rs1290684098 c.1788C>A
rs777777359 c.1810C>T
rs138527651 c.1939T>C
rs121908074 c.1960A>G 606706.0003 Ancestry v2
rs1448901281 c.2030T>C


DFNA36 (dominantly inherited)
rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs775428246 c.236+1G>C
rs786201027 c.1253T>A 606706.0007 Ancestry v2c
rs1387886173 c.1566+1G>A
rs121908072 c.1714G>C 606706.0004
rs121908072 c.1714G>A 606706.0001