TPRN, taperin, 286262

N. diseases: 7; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1187168418
rs1187168418
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C2750082
Disease:
Deafness, Autosomal Recessive 79 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1187168418
rs1187168418
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C1384666
Disease:
hearing impairment 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1564386891
rs1564386891
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C2750082
Disease:
Deafness, Autosomal Recessive 79 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1564386891
rs1564386891
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267607135
rs267607135
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C2750082
Disease:
Deafness, Autosomal Recessive 79 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906219
rs387906219
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C2750082
Disease:
Deafness, Autosomal Recessive 79 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906220
rs387906220
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C2750082
Disease:
Deafness, Autosomal Recessive 79 		GCAGCCGCGCCC 0.700 CausalMutation CLINVAR
dbSNP: rs387906221
rs387906221
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C2750082
Disease:
Deafness, Autosomal Recessive 79 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906222
rs387906222
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
CUI: C2750082
Disease:
Deafness, Autosomal Recessive 79 		T 0.700 CausalMutation CLINVAR