SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Folate Malabsorption, Hereditary ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338774
rs80338774 		0.925 0.160 17 28400658 missense variant G/A;C snv
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.810 1.000 7 2006 2012
dbSNP: rs281875210
rs281875210 		1.000 0.080 17 28405231 missense variant C/A;G snv
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.810 1.000 6 2006 2011
dbSNP: rs80338770
rs80338770 		0.925 0.160 17 28405360 missense variant G/A;T snv 5.1E-06
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.810 1.000 6 2006 2011
dbSNP: rs281875208
rs281875208 		0.925 0.160 17 28404693 missense variant G/T snv 2.8E-05 4.2E-05
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs281875209
rs281875209 		0.925 0.160 17 28404685 missense variant C/G;T snv 4.5E-04
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs281875211
rs281875211 		0.925 0.160 17 28402276 missense variant C/T snv 8.1E-06 2.8E-05
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs80338771
rs80338771 		1.000 0.080 17 28405258 missense variant C/G snv
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs80338772
rs80338772 		1.000 0.080 17 28404743 missense variant G/C snv 8.0E-06
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs80338773
rs80338773 		1.000 0.080 17 28402277 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 6 2006 2011
dbSNP: rs154623632
rs154623632 		1.000 0.080 17 28405917 stop gained GC/TT mnv
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397515391
rs397515391 		1.000 0.080 17 28405910 frameshift variant GG/- del
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397515574
rs397515574 		1.000 0.080 17 28406092 frameshift variant G/-;GG delins
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338769
rs80338769 		1.000 0.080 17 28405921 frameshift variant C/-;CC delins 4.2E-05
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338775
rs80338775 		1.000 0.080 17 28402322 splice acceptor variant C/T snv 4.1E-06 8.4E-05
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0