Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.010 GeneticVariation BEFREE The risk of acrocyanosis was significantly higher in patients homozygous for the mutation c.677C>T compared to those with no mutation (OR = 4.8 (95%CI 1.5-14.9)). 23816603

2015