HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Maturity onset diabetes mellitus in young ×
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: rs1555212248
rs1555212248 		0.925 0.080 12 120996570 frameshift variant T/- del
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2004 2019
dbSNP: rs1057520504
rs1057520504 		0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2009 2015
dbSNP: rs1057520779
rs1057520779 		1.000 0.080 12 120993679 missense variant G/A snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1172328722
rs1172328722 		0.925 0.080 12 120988982 missense variant G/A snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs137853243
rs137853243 		0.882 0.080 12 120988841 missense variant C/T snv 4.0E-06
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1800574
rs1800574 		0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs193922600
rs193922600 		0.925 0.080 12 120993663 missense variant C/T snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs753998395
rs753998395 		0.925 0.080 12 120988898 missense variant G/A;T snv 4.0E-06
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006