Disease: Pili torti-deafness syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201454788
rs201454788
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease:
Pili torti-deafness syndrome 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs201454788
rs201454788
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease:
Pili torti-deafness syndrome 		T 0.700 GeneticVariation CLINVAR Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 19389488 2009
dbSNP: rs201454788
rs201454788
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease:
Pili torti-deafness syndrome 		T 0.700 GeneticVariation CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007