HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
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: rs1060499693
rs1060499693 		1.000 0.080 20 44418482 missense variant T/A snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1280663753
rs1280663753 		1.000 0.080 20 44414548 inframe deletion AGA/- delins
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137853334
rs137853334 		1.000 0.080 20 44419813 stop gained C/G;T snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137853335
rs137853335 		1.000 0.080 20 44413795 stop gained C/T snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555813319
rs1555813319 		1.000 0.040 20 44406208 missense variant G/A snv
CUI: C4274078
Disease: Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to HNF4A deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555816654
rs1555816654 		1.000 0.080 20 44419790 missense variant T/C snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1568731279
rs1568731279 		0.925 0.160 20 44414506 splice acceptor variant G/A snv
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1568731279
rs1568731279 		0.925 0.160 20 44414506 splice acceptor variant G/A snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1568731279
rs1568731279 		0.925 0.160 20 44414506 splice acceptor variant G/A snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922469
rs193922469 		1.000 0.080 20 44428368 missense variant C/A;G snv 4.0E-06
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922470
rs193922470 		1.000 0.080 20 44428458 splice donor variant G/C snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922471
rs193922471 		1.000 0.080 20 44407437 frameshift variant GG/C delins
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922474
rs193922474 		1.000 0.080 20 44414633 missense variant G/C snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922475
rs193922475 		1.000 0.080 20 44414652 splice donor variant ACGACCAGGTGAGGATGG/- delins
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922476
rs193922476 		1.000 0.080 20 44418502 frameshift variant GCT/TCAA delins
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922477
rs193922477 		1.000 0.080 20 44419818 missense variant G/C snv 4.0E-06 4.2E-05
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922479
rs193922479 		0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922479
rs193922479 		0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777732
rs587777732 		0.763 0.240 20 44406195 missense variant C/T snv
CUI: C4274078
Disease: Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to HNF4A deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs776489992
rs776489992 		1.000 0.040 20 44424133 inframe deletion TGC/-;TGCTGC delins 1.4E-04
CUI: C4274078
Disease: Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to HNF4A deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1392795567
rs1392795567 		0.925 0.080 20 44414663 splice donor variant G/A snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 4 1977 2013
dbSNP: rs1392795567
rs1392795567 		0.925 0.080 20 44414663 splice donor variant G/A snv
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 4 1977 2013
dbSNP: rs750703108
rs750703108 		1.000 0.080 20 44401424 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1993 1993