Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912609
rs121912609
FREM1
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid Nose With Or Without Anorectal And Renal Anomalies 		0.800 GeneticVariation UNIPROT FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 19732862

2009
dbSNP: rs121912609
rs121912609
FREM1
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid Nose With Or Without Anorectal And Renal Anomalies 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121912610
rs121912610
FREM1
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid Nose With Or Without Anorectal And Renal Anomalies 		0.800 GeneticVariation UNIPROT FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 19732862

2009
dbSNP: rs121912610
rs121912610
FREM1
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid Nose With Or Without Anorectal And Renal Anomalies 		T 0.800 CausalMutation CLINVAR