Gene: PNPLA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1182312612
rs1182312612
PNPLA1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017
dbSNP: rs1554138062
rs1554138062
PNPLA1
C 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017
dbSNP: rs369445146
rs369445146
PNPLA1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017
dbSNP: rs781053760
rs781053760
PNPLA1
C 0.700 CausalMutation CLINVAR Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 28403545

2017