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: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.850 1.000 5 1957 2018
dbSNP: rs121908031
rs121908031
LDLR
0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.720 1.000 2 1964 2015
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 1 1973 2017
dbSNP: rs387907218
rs387907218
TAZ
1.000 0.120 X 154420676 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 1 1973 2018
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.730 1.000 3 1975 2013
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 1.000 2 1975 2017
dbSNP: rs121434529
rs121434529
NAGA
0.925 0.120 22 42061052 missense variant C/T snv 2.5E-03 2.2E-03
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.810 1.000 1 1975 2004
dbSNP: rs771917370
rs771917370
LDLR
0.925 0.080 19 11105537 missense variant C/G;T snv 1.2E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.710 1.000 1 1975 2016
dbSNP: rs59793293
rs59793293
GFAP
1.000 0.120 17 44915252 missense variant G/A;C;T snv
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.820 1.000 2 1976 2019
dbSNP: rs104893689
rs104893689
CASR
0.790 0.200 3 122261589 missense variant G/A;C snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.810 1.000 1 1976 2016
dbSNP: rs137854468
rs137854468
FBN1
0.851 0.160 15 48487396 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.810 1.000 1 1976 2013
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
HBA2
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
HBA2
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
HBA1
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
HBA1
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: rs33986703
rs33986703
HBB
0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.710 1.000 1 1979 2015
dbSNP: rs137852538
rs137852538
PGK1
0.925 0.080 X 78117385 missense variant A/T snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.810 1.000 1 1980 2006
dbSNP: rs33950507
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.810 1.000 1 1980 2017
dbSNP: rs11549407
rs11549407
HBB
0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.710 1.000 1 1981 2015
dbSNP: rs28929474
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.800 1.000 11 1982 2019
dbSNP: rs121918027
rs121918027
PLG
0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		0.750 1.000 5 1982 2017
dbSNP: rs121918028
rs121918028
PLG
1.000 0.120 6 160722431 missense variant G/T snv 8.0E-06
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		0.810 1.000 1 1982 2003
dbSNP: rs137852483
rs137852483
HPRT1
1.000 0.120 X 134490192 missense variant T/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.810 1.000 1 1983 2014