INS, insulin, 3630

N. diseases: 405; N. variants: 37
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: rs28933985
rs28933985
1.000 0.080 11 2159919 missense variant C/A;G;T snv 4.4E-06
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 1.000 7 1985 2010
dbSNP: rs121918101
rs121918101
1.000 0.080 11 2160872 missense variant G/C snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 5 1985 2010
dbSNP: rs121908260
rs121908260
0.851 0.160 11 2160835 missense variant C/T snv
Maturity-onset diabetes of the young, type 10
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 2008 2014
dbSNP: rs121908278
rs121908278
1.000 0.080 11 2160956 missense variant G/A;C snv 2.8E-05; 4.1E-06
Maturity-onset diabetes of the young, type 10
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 2008 2014
dbSNP: rs121908277
rs121908277
1.000 0.080 11 2159877 missense variant T/C snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356663
rs80356663
0.925 0.120 11 2160901 missense variant G/A;T snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356664
rs80356664
0.882 0.120 11 2160878 missense variant C/G;T snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356666
rs80356666
1.000 0.080 11 2160845 missense variant A/C snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356667
rs80356667
1.000 0.080 11 2160832 missense variant C/A snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356668
rs80356668
0.925 0.080 11 2160829 missense variant A/C;G snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356669
rs80356669
1.000 0.080 11 2159920 missense variant G/A snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356670
rs80356670
1.000 0.080 11 2159917 missense variant C/A snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356671
rs80356671
1.000 0.080 11 2159898 missense variant C/G;T snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356672
rs80356672
0.925 0.120 11 2159862 missense variant T/C snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs121908261
rs121908261
0.851 0.120 11 2160809 missense variant G/A snv
DIABETES MELLITUS, INSULIN-DEPENDENT, 2
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs689
rs689
0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.790 1.000 12 2009 2019
dbSNP: rs689
rs689
0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 3 2016 2019
dbSNP: rs689
rs689
0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
Latent Autoimmune Diabetes in Adults
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2018 2019
dbSNP: rs1057524907
rs1057524907
0.925 0.080 11 2159907 missense variant T/C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
Nutritional and Metabolic Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1057524907
rs1057524907
0.925 0.080 11 2159907 missense variant T/C snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1564911425
rs1564911425
0.925 0.080 11 2159895 missense variant G/C snv
Maturity-onset diabetes of the young, type 10
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1564911425
rs1564911425
0.925 0.080 11 2159895 missense variant G/C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
Nutritional and Metabolic Diseases 0.700 1.000 5 2007 2015
dbSNP: rs121908259
rs121908259
1.000 0.080 11 2160955 missense variant C/T snv 9.3E-05 1.9E-04
Maturity-onset diabetes of the young, type 10
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 4 2008 2014
dbSNP: rs748749585
rs748749585
1.000 0.080 11 2161302 5 prime UTR variant G/A;C;T snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 2010 2011
dbSNP: rs1135401727
rs1135401727
1.000 0.080 11 2161314 5 prime UTR variant GATGGCTGGGGGCTGAGGCTGCAA/- delins 2.1E-05
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2010 2010