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: rs4680
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 0.854 123 1997 2019
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.902 118 1997 2018
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.974 115 2005 2019
dbSNP: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.100 0.965 113 2010 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.800 0.991 105 1996 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.981 103 2005 2019
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 0.893 103 1997 2018
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.980 102 2005 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.990 98 2002 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.100 0.980 98 2004 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.900 0.980 98 2005 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.100 1.000 91 2004 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 0.876 89 2003 2019
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 0.910 89 2003 2020
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 0.865 89 1994 2019
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.100 0.944 89 2009 2020
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.979 87 2006 2019
dbSNP: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.800 0.943 85 2001 2020
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.100 0.918 85 2003 2020
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 0.869 84 2003 2019
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.100 0.917 84 2003 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.100 0.988 83 2003 2020
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 0.960 82 1996 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 0.901 81 2003 2020
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 0.886 79 1997 2019