Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894281
rs104894281
NECTIN1
0.710 GeneticVariation BEFREE Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. 16674562

2006
dbSNP: rs104894281
rs104894281
NECTIN1
T 0.710 CausalMutation CLINVAR

dbSNP: rs876657374
rs876657374
NECTIN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853255
rs878853255
NECTIN1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs769476648
rs769476648
NECTIN1
0.010 GeneticVariation BEFREE Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 25913853

2015