Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35725509
rs35725509
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder)
0.010 GeneticVariation BEFREE This study represents the first confirmation of the rs35725509 variant in an independent family as a likely cause for the complex hearing loss phenotype (SNHL and ANSD) observed in this family dyad. 29671961 2018
dbSNP: rs35725509
rs35725509
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2
CUI: C2732267
Disease:
Auditory neuropathy spectrum disorder
0.010 GeneticVariation BEFREE This study represents the first confirmation of the rs35725509 variant in an independent family as a likely cause for the complex hearing loss phenotype (SNHL and ANSD) observed in this family dyad. 29671961 2018
dbSNP: rs7961953
rs7961953
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2
CUI: C0152136
Disease:
Low Tension Glaucoma
0.010 GeneticVariation BEFREE A total of 661 Japanese patients including 417 patients with POAG [normal tension glaucoma (NTG), n=210; high tension glaucoma (HTG), n=207] and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2). 28930887 2017
dbSNP: rs7961953
rs7961953
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.010 GeneticVariation BEFREE A total of 661 Japanese patients including 417 patients with POAG [normal tension glaucoma (NTG), n=210; high tension glaucoma (HTG), n=207] and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2). 28930887 2017