rs886037834, PKD1L1

N. diseases: 6
Disease: Situs inversus totalis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
0.710 GeneticVariation BEFREE In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. 27616478 2016
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
0.710 GeneticVariation CLINVAR In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. 27616478 2016