Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1221990885
rs1221990885
EHMT1
9 137744035 missense variant C/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1361231265
rs1361231265
EHMT1
1.000 0.080 9 137716815 missense variant C/G snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2013 2013
dbSNP: rs142727972
rs142727972
EHMT1
0.925 0.080 9 137743479 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2018 2018
dbSNP: rs142727972
rs142727972
EHMT1
0.925 0.080 9 137743479 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2018 2018
dbSNP: rs142727972
rs142727972
EHMT1
0.925 0.080 9 137743479 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs373269573
rs373269573
EHMT1
0.925 0.080 9 137711015 missense variant G/A snv 1.6E-04 9.1E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2002 2002
dbSNP: rs373269573
rs373269573
EHMT1
0.925 0.080 9 137711015 missense variant G/A snv 1.6E-04 9.1E-05
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 < 0.001 1 2002 2002
dbSNP: rs587780332
rs587780332
EHMT1
0.925 0.280 9 137790891 missense variant C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs587780332
rs587780332
EHMT1
0.925 0.280 9 137790891 missense variant C/T snv
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.010 1.000 1 2017 2017
dbSNP: rs764437500
rs764437500
EHMT1
0.925 0.080 9 137716697 missense variant G/A snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2002 2002
dbSNP: rs764437500
rs764437500
EHMT1
0.925 0.080 9 137716697 missense variant G/A snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 < 0.001 1 2002 2002