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: rs800292
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.980 48 2005 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 0.961 47 2007 2020
dbSNP: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 0.989 47 1984 2019
dbSNP: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.961 45 2007 2019
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.900 0.955 43 2007 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 0.945 42 2007 2019
dbSNP: rs17782313
rs17782313 		0.683 0.480 18 60183864 intergenic variant T/C snv 0.24
CUI: C0028754
Disease: Obesity
Obesity 		0.900 0.905 41 2008 2019
dbSNP: rs121912678
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		0.900 1.000 39 2006 2020
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.900 1.000 39 2009 2020
dbSNP: rs74315401
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.900 0.979 38 1989 2019
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.900 1.000 33 1990 2019
dbSNP: rs35705950
rs35705950 		0.763 0.240 11 1219991 splice region variant G/A;T snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.900 0.971 33 2011 2019
dbSNP: rs3803662
rs3803662
CASC16
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.900 0.953 33 2007 2019
dbSNP: rs10811661
rs10811661 		0.724 0.400 9 22134095 intergenic variant T/C snv 0.14
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.955 32 2007 2019
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
0.614 0.520 9 22125504 intron variant G/C snv 0.41
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.900 0.944 32 2007 2019
dbSNP: rs2200733
rs2200733 		0.752 0.240 4 110789013 intergenic variant C/T snv 0.18
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.900 0.971 32 2007 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 0.972 30 2004 2019
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 0.944 29 2006 2020
dbSNP: rs121909211
rs121909211
TGFBI
0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.900 1.000 29 1998 2019
dbSNP: rs10830963
rs10830963
MTNR1B
0.776 0.400 11 92975544 intron variant C/G snv 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.939 27 2009 2020
dbSNP: rs121909210
rs121909210
TGFBI
0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 0.969 26 1998 2019
dbSNP: rs1625579
rs1625579
MIR137HG
0.763 0.160 1 98037378 intron variant G/T snv 0.78
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.900 0.893 26 2011 2019
dbSNP: rs63750264
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 1.000 26 1991 2019
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 26 1998 2019
dbSNP: rs7574865
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.900 0.966 26 2007 2017