Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908577
rs121908577
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.800 GeneticVariation UNIPROT Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246

2013
dbSNP: rs121908577
rs121908577
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.800 GeneticVariation UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340

2007
dbSNP: rs121908577
rs121908577
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		A 0.800 CausalMutation CLINVAR