Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1373230987
rs1373230987
Entrez Id: 285848
Gene Symbol: PNPLA1
PNPLA1
CUI: C3554355
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		G 0.700 GeneticVariation CLINVAR