Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs767833468
rs767833468
1.000 0.080 4 99618993 missense variant G/A snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 8 1996 2015
dbSNP: rs199422220
rs199422220
1.000 0.080 4 99608827 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1996 2013
dbSNP: rs199422221
rs199422221
1.000 0.080 4 99619094 missense variant A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2000 2013
dbSNP: rs199422222
rs199422222
1.000 0.080 4 99608977 missense variant G/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2013
dbSNP: rs1367079155
rs1367079155
1.000 0.080 4 99594764 missense variant G/C snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1996 2015
dbSNP: rs1485375137
rs1485375137
1.000 0.080 4 99608790 missense variant T/C snv 7.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1996 2015
dbSNP: rs372321643
rs372321643
1.000 0.080 4 99608826 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1996 2015
dbSNP: rs146064714
rs146064714
1.000 0.080 4 99622756 stop gained G/T snv 1.2E-04 3.5E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1995 2007
dbSNP: rs755681036
rs755681036
1.000 0.080 4 99613134 frameshift variant T/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1995 2008
dbSNP: rs12509976
rs12509976
4 99596167 intron variant C/T snv 7.7E-02
High density lipoprotein measurement
0.700 1.000 1 2018 2018
dbSNP: rs1560614646
rs1560614646
1.000 0.080 4 99583431 stop gained A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1560621495
rs1560621495
1.000 0.080 4 99601674 missense variant T/A snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7668586
rs7668586
4 99615206 intron variant C/T snv 0.11
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs1553926818
rs1553926818
1.000 0.080 4 99591735 frameshift variant CA/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553927840
rs1553927840
1.000 0.080 4 99608764 splice acceptor variant A/G snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560614154
rs1560614154
1.000 0.080 4 99582057 frameshift variant C/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560621444
rs1560621444
1.000 0.080 4 99601606 splice acceptor variant G/A snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs199422219
rs199422219
1.000 0.080 4 99611156 stop gained C/T snv 7.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs748843032
rs748843032
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.100 0.917 12 2006 2018
dbSNP: rs748843032
rs748843032
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
0.070 1.000 7 2006 2019
dbSNP: rs748843032
rs748843032
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
Neoplasms 0.030 1.000 3 2009 2017
dbSNP: rs748843032
rs748843032
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia
Neoplasms 0.030 1.000 3 2009 2017
dbSNP: rs748843032
rs748843032
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.030 0.667 3 2006 2014
dbSNP: rs1800591
rs1800591
0.882 0.120 4 99574331 intron variant G/T snv 0.26
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
Digestive System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs1057613
rs1057613
1.000 0.040 4 99583828 3 prime UTR variant G/A snv 0.60
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
Digestive System Diseases 0.010 1.000 1 2014 2014