APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
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: rs121918383
rs121918383
1.000 0.040 2 21013379 stop gained G/A;C snv 8.0E-06
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918384
rs121918384
1.000 0.040 2 21011301 frameshift variant CA/- delins 4.0E-06
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918385
rs121918385
1.000 0.040 2 21003241 frameshift variant C/- del
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918386
rs121918386
1.000 0.040 2 21010615 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918387
rs121918387
1.000 0.040 2 21007668 frameshift variant T/- delins
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918389
rs121918389
1.000 0.040 2 21012439 stop gained G/A;C snv 4.0E-06
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918390
rs121918390
1.000 0.040 2 21009304 stop gained G/A snv 1.6E-05 7.0E-06
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553383898
rs1553383898
1.000 0.040 2 21011630 stop gained A/C snv
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553384177
rs1553384177
0.925 0.040 2 21013287 stop gained G/C;T snv
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553384441
rs1553384441
1.000 0.040 2 21015144 stop gained TAGCATACATAT/CCTAAG delins
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553385404
rs1553385404
0.925 0.080 2 21022861 frameshift variant G/-;GG delins
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281865425
rs281865425
1.000 0.040 2 21011602 frameshift variant TTGT/- delins
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906569
rs387906569
1.000 0.040 2 21004451 splice acceptor variant C/- delins
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397514255
rs397514255
1.000 0.040 2 21011405 frameshift variant C/- del 4.0E-06
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397514256
rs397514256
1.000 0.040 2 21012516 frameshift variant C/- delins
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776852
rs587776852
1.000 0.040 2 21005156 frameshift variant G/- del 4.0E-06 1.4E-05
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231236
rs606231236
1.000 0.040 2 21033517 splice acceptor variant -/CC delins
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs759934326
rs759934326
1.000 0.040 2 21006235 stop gained C/A;T snv 4.0E-06
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs771541567
rs771541567
0.851 0.120 2 21029900 missense variant G/A;T snv 8.0E-06; 2.0E-05
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
Nutritional and Metabolic Diseases 0.040 1.000 4 2003 2009