rs121908577, BCS1L

N. diseases: 2
Disease: Pili torti-deafness syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pili torti-deafness syndrome
CUI: C0266006
Disease: Pili torti-deafness syndrome
0.800 GeneticVariation UNIPROT Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
Pili torti-deafness syndrome
CUI: C0266006
Disease: Pili torti-deafness syndrome
0.800 GeneticVariation UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
Pili torti-deafness syndrome
CUI: C0266006
Disease: Pili torti-deafness syndrome
0.800 CausalMutation CLINVAR