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: rs754190776
rs754190776
HBG2
0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 1989 1989
dbSNP: rs11541796
rs11541796
TTR
0.807 0.280 18 31593011 missense variant A/G snv
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.010 1.000 1 1990 1990
dbSNP: rs11558261
rs11558261
SERPINA1
0.882 0.160 14 94382823 missense variant C/T snv 9.1E-05 3.5E-05
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.710 1.000 1 1990 1990
dbSNP: rs121909552
rs121909552
SERPINC1
0.925 0.080 1 173914725 missense variant C/T snv 9.5E-05 1.7E-04
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.010 1.000 1 1990 1990
dbSNP: rs1265843445
rs1265843445
HBA1
0.925 0.080 16 177311 missense variant T/G snv 4.0E-06
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.010 1.000 1 1990 1990
dbSNP: rs1265843445
rs1265843445
HBA1
0.925 0.080 16 177311 missense variant T/G snv 4.0E-06
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.010 1.000 1 1990 1990
dbSNP: rs28937312
rs28937312
SERPINA7
1.000 0.040 X 106035268 missense variant A/G snv 5.5E-06
CUI: C3711378
Disease: Inherited Thyroxine-Binding Globulin Deficiency
Inherited Thyroxine-Binding Globulin Deficiency 		0.010 1.000 1 1990 1990
dbSNP: rs41479844
rs41479844
HBA2
0.925 0.080 16 173500 missense variant T/G snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.010 1.000 1 1990 1990
dbSNP: rs41479844
rs41479844
HBA2
0.925 0.080 16 173500 missense variant T/G snv
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.010 1.000 1 1990 1990
dbSNP: rs72658196
rs72658196
COL1A2
1.000 0.120 7 94423092 missense variant G/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 1.000 1 1990 1990
dbSNP: rs767587977
rs767587977
APOB
0.882 0.120 2 21002962 stop gained C/A;T snv 8.2E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 1990 1990
dbSNP: rs76992529
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp 		0.010 1.000 1 1990 1990
dbSNP: rs886059903
rs886059903
FBN2
1.000 0.040 5 128464786 missense variant G/A snv
CUI: C3711378
Disease: Inherited Thyroxine-Binding Globulin Deficiency
Inherited Thyroxine-Binding Globulin Deficiency 		0.010 1.000 1 1990 1990
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007121
Disease: Bronchogenic Carcinoma
Bronchogenic Carcinoma 		0.010 1.000 1 1991 1991
dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		0.010 1.000 1 1991 1991
dbSNP: rs1057519975
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 1991 1991
dbSNP: rs120074117
rs120074117
SMPD1
0.882 0.160 11 6394204 missense variant G/A;C;T snv 1.2E-05; 4.0E-06; 1.4E-04
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 1.000 1 1991 1991
dbSNP: rs121907936
rs121907936
GAA
0.882 0.120 17 80107894 missense variant T/A;C snv 4.2E-05 5.6E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 1991 1991
dbSNP: rs121912906
rs121912906
COL1A2
0.925 0.120 7 94412593 missense variant G/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 1.000 1 1991 1991
dbSNP: rs121918074
rs121918074
TTR
0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.010 1.000 1 1991 1991
dbSNP: rs121918382
rs121918382
APOC3
0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.010 1.000 1 1991 1991
dbSNP: rs121964999
rs121964999
DBT
0.882 0.120 1 100214929 missense variant A/C snv 1.1E-04 1.0E-04
CUI: C0751285
Disease: Maple Syrup Urine Disease, Thiamine Responsive
Maple Syrup Urine Disease, Thiamine Responsive 		0.010 1.000 1 1991 1991
dbSNP: rs1311444460
rs1311444460
CYP11B2 ; GML
0.925 0.200 8 142912585 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0268292
Disease: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency 		0.010 1.000 1 1991 1991
dbSNP: rs1311444460
rs1311444460
CYP11B2 ; GML
0.925 0.200 8 142912585 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 1991 1991
dbSNP: rs17849781
rs17849781
TP53
0.701 0.480 17 7673788 missense variant G/A;C;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 1991 1991