TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: PERRAULT SYNDROME 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759603316
rs759603316
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		A 0.700 CausalMutation CLINVAR