TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Mitochondrial Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033573
rs111033573
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0751651
Disease:
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
dbSNP: rs111033577
rs111033577
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0751651
Disease:
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
dbSNP: rs1554887028
rs1554887028
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0751651
Disease:
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
dbSNP: rs1554887097
rs1554887097
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0751651
Disease:
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
dbSNP: rs1554887213
rs1554887213
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0751651
Disease:
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
dbSNP: rs1554887222
rs1554887222
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0751651
Disease:
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
dbSNP: rs28937887
rs28937887
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0751651
Disease:
Mitochondrial Diseases 		A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017