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: rs1006737
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.900 1.000 25 2010 2019
dbSNP: rs1111875
rs1111875 		0.776 0.360 10 92703125 intergenic variant C/T snv 0.36
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.914 25 2007 2020
dbSNP: rs78655421
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.985 25 1992 2019
dbSNP: rs2046210
rs2046210 		0.708 0.280 6 151627231 intergenic variant G/A snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.900 1.000 24 2009 2019
dbSNP: rs2237892
rs2237892
KCNQ1
0.790 0.320 11 2818521 intron variant C/T snv 9.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 1.000 24 2008 2019
dbSNP: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 1.000 24 1995 2018
dbSNP: rs1006737
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.900 0.964 23 2008 2019
dbSNP: rs7574865
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 0.967 23 2007 2017
dbSNP: rs8050136
rs8050136
FTO
0.716 0.560 16 53782363 intron variant C/A snv 0.40
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.964 23 2007 2019
dbSNP: rs3851179
rs3851179 		0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 0.826 22 2009 2019
dbSNP: rs11136000
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 0.913 21 2009 2018
dbSNP: rs30187
rs30187
ERAP1
0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.900 0.957 21 2009 2020
dbSNP: rs76151636
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.900 1.000 21 1993 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.900 0.966 21 2005 2019
dbSNP: rs7756992
rs7756992
CDKAL1
0.827 0.240 6 20679478 intron variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.966 21 2007 2019
dbSNP: rs6897932
rs6897932
IL7R
0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.900 0.909 20 2007 2018
dbSNP: rs9277535
rs9277535
HLA-DPB1
0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.900 0.917 20 2009 2018
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.900 0.773 19 2006 2020
dbSNP: rs1127354
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.900 0.900 19 2010 2020
dbSNP: rs1143679
rs1143679
ITGAM
0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 1.000 19 2009 2019
dbSNP: rs2230199
rs2230199
C3
0.763 0.240 19 6718376 missense variant G/C;T snv 0.15
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.852 19 2009 2020
dbSNP: rs3077
rs3077
HLA-DPA1
0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.900 0.913 19 2009 2019
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 0.964 19 2007 2019
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
0.614 0.520 9 22125504 intron variant G/C snv 0.41
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.900 1.000 18 2007 2020
dbSNP: rs1421085
rs1421085
FTO
0.752 0.280 16 53767042 intron variant T/C snv 0.31
CUI: C0028754
Disease: Obesity
Obesity 		0.900 1.000 18 2007 2019