Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519006
rs1057519006
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
CUI: C0016395
Disease:
Focal Dermal Hypoplasia
C 0.700 GeneticVariation CLINVAR