Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555344723
rs1555344723
CUI: C4538468
Disease: MARSILI SYNDROME
MARSILI SYNDROME
0.700 GeneticVariation UNIPROT A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. 29253101

2018