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: rs2072446
rs2072446
NGFR ; LOC100288866 ; MIR6165
0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.020 1.000 2 2004 2013
dbSNP: rs121908388
rs121908388
CYLD ; LOC105371251
0.925 0.120 16 50792627 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs4536103
rs4536103
NEUROG3 ; LOC101929021
1.000 0.080 10 69572448 missense variant A/G snv 0.56 0.55
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2004 2004
dbSNP: rs74315449
rs74315449
KCNE2 ; LOC105372791
0.882 0.120 21 34370557 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2004 2004
dbSNP: rs765431049
rs765431049
GNGT1 ; TFPI2 ; LOC105375401
0.925 0.040 7 93890271 missense variant C/T snv 1.6E-05
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 1.000 1 2004 2004
dbSNP: rs765431049
rs765431049
GNGT1 ; TFPI2 ; LOC105375401
0.925 0.040 7 93890271 missense variant C/T snv 1.6E-05
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 1.000 1 2004 2004
dbSNP: rs765431049
rs765431049
GNGT1 ; TFPI2 ; LOC105375401
0.925 0.040 7 93890271 missense variant C/T snv 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs765431049
rs765431049
GNGT1 ; TFPI2 ; LOC105375401
0.925 0.040 7 93890271 missense variant C/T snv 1.6E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2004 2004
dbSNP: rs775414901
rs775414901
PRDX2 ; RNASEH2A ; HOOK2
1.000 0.080 19 12801169 synonymous variant C/G;T snv 3.6E-05
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.010 1.000 1 2004 2004
dbSNP: rs1044845711
rs1044845711
ADAR ; CHRNB2
1.000 0.080 1 154585024 missense variant G/A snv 7.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.720 1.000 2 2005 2013
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.720 0.667 2 2005 2011
dbSNP: rs28938175
rs28938175
COCH ; LOC100506071
0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 1.000 1 2005 2005
dbSNP: rs28938175
rs28938175
COCH ; LOC100506071
0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.710 1.000 1 2005 2005
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2005 2005
dbSNP: rs759223338
rs759223338
BACE1 ; BACE1-AS
0.925 0.080 11 117291736 synonymous variant G/C snv 1.6E-05 7.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2005 2005
dbSNP: rs1220613211
rs1220613211
PNKD ; LOC105373881
0.925 0.080 2 218323293 missense variant C/T snv
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		0.020 1.000 2 2006 2006
dbSNP: rs1220613211
rs1220613211
PNKD ; LOC105373881
0.925 0.080 2 218323293 missense variant C/T snv
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		0.020 1.000 2 2006 2006
dbSNP: rs2854344
rs2854344
RB1 ; LPAR6
0.925 0.080 13 48423557 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2006 2006
dbSNP: rs2854344
rs2854344
RB1 ; LPAR6
0.925 0.080 13 48423557 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2006 2006
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2006 2006
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2006 2006
dbSNP: rs121909511
rs121909511
CHRNE ; C17orf107
0.925 0.040 17 4900845 missense variant G/A snv
CUI: C0393934
Disease: Slow channel syndrome
Slow channel syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2006 2006
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 1.000 1 2006 2006
dbSNP: rs1356083197
rs1356083197
WDR26 ; CNIH3
1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2006 2006