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: rs33935445
rs33935445
HBB
0.925 0.080 11 5226978 missense variant A/C;G snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
0.010 1.000 1 1976 1976
dbSNP: rs33935445
rs33935445
HBB
0.925 0.080 11 5226978 missense variant A/C;G snv
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
0.010 1.000 1 1976 1976
dbSNP: rs281864855
rs281864855
0.925 0.080 16 173246 missense variant C/G;T snv
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia
0.010 1.000 1 1979 1979
dbSNP: rs281864855
rs281864855
0.925 0.080 16 173246 missense variant C/G;T snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.010 1.000 1 1979 1979
dbSNP: rs28928875
rs28928875
0.925 0.080 16 177056 missense variant G/A;C snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.010 1.000 1 1979 1979
dbSNP: rs28928875
rs28928875
0.925 0.080 16 177056 missense variant G/A;C snv
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia
0.010 1.000 1 1979 1979
dbSNP: rs281864810
rs281864810
0.925 0.080 16 172955 missense variant T/A;C snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.010 1.000 1 1984 1984
dbSNP: rs281864810
rs281864810
0.925 0.080 16 172955 missense variant T/A;C snv
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia
0.010 1.000 1 1984 1984
dbSNP: rs33964317
rs33964317
0.925 0.080 16 176759 missense variant T/A;C;Y snv 1.7E-04 1.4E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.010 1.000 1 1984 1984
dbSNP: rs33964317
rs33964317
0.925 0.080 16 176759 missense variant T/A;C;Y snv 1.7E-04 1.4E-05
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia
0.010 1.000 1 1984 1984
dbSNP: rs104894225
rs104894225
1.000 0.080 11 5254380 missense variant A/G snv
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia
0.010 1.000 1 1986 1986
dbSNP: rs1061234
rs1061234
1.000 0.080 11 5249456 missense variant G/A snv 0.36
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia
0.010 1.000 1 1986 1986
dbSNP: rs121918057
rs121918057
0.882 0.160 1 45014803 missense variant G/A;T snv 1.2E-05; 8.0E-06
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
0.010 1.000 1 1986 1986
dbSNP: rs11542041
rs11542041
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.010 1.000 1 1988 1988
dbSNP: rs11542041
rs11542041
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia
0.010 1.000 1 1988 1988
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.010 1.000 1 1988 1988
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia
0.010 1.000 1 1988 1988
dbSNP: rs200222843
rs200222843
0.851 0.120 2 21003286 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 1.000 1 1989 1989
dbSNP: rs200222843
rs200222843
0.851 0.120 2 21003286 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb
0.010 1.000 1 1989 1989
dbSNP: rs200222843
rs200222843
0.851 0.120 2 21003286 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 1.000 1 1989 1989
dbSNP: rs200222843
rs200222843
0.851 0.120 2 21003286 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.010 1.000 1 1989 1989
dbSNP: rs33972047
rs33972047
HBB
0.851 0.080 11 5226963 missense variant T/C snv
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.010 1.000 1 1989 1989
dbSNP: rs387906475
rs387906475
F9
0.882 0.080 X 139530843 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.010 1.000 1 1989 1989
dbSNP: rs387906475
rs387906475
F9
0.882 0.080 X 139530843 missense variant G/A snv
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.010 1.000 1 1989 1989
dbSNP: rs754190776
rs754190776
0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.010 1.000 1 1989 1989