Disease: Situs inversus totalis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037834
rs886037834
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1
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
dbSNP: rs886037834
rs886037834
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1
CUI: C4551493
Disease:
Situs inversus totalis 		G 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