Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833854
rs386833854
Entrez Id: 9401;113655
Gene Symbol: RECQL4;MFSD3
RECQL4;MFSD3
CUI: C1849453
Disease:
Rapadilino syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs897755799
rs897755799
Entrez Id: 2875;113655;101928953
Gene Symbol: GPT;MFSD3;LOC101928953
GPT;MFSD3;LOC101928953
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		0.010 GeneticVariation BEFREE The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. 24658845 2014