Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs143301836
rs143301836
APOB
1 1.000 0.080 2 21037162 stop gained G/A;T snv 0.700 1.000 2 2014 2015
dbSNP: rs1057518647
rs1057518647
APOB
2 0.925 0.080 2 21019728 frameshift variant CCCGGTC/- delins 0.700 0
dbSNP: rs1553382678
rs1553382678
APOB
1 1.000 0.080 2 21004651 frameshift variant CT/- delins 0.700 0
dbSNP: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 0
dbSNP: rs756209187
rs756209187
APOB
1 1.000 0.080 2 21006630 frameshift variant G/- del 4.0E-06 2.8E-05 0.700 0
dbSNP: rs797045253
rs797045253
APOB
1 1.000 0.080 2 21002397 frameshift variant G/- delins 0.700 0
dbSNP: rs1334979946
rs1334979946
ANGPTL3 ; DOCK7
2 0.925 0.080 1 62604068 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs3816873
rs3816873
MTTP
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2004 2004
dbSNP: rs554488891
rs554488891
PCSK9
1 1.000 0.080 1 55056139 missense variant G/A;T snv 5.0E-06; 1.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs61750974
rs61750974
MTTP
1 1.000 0.080 4 99591235 missense variant G/A snv 1.0E-02 7.8E-03 0.010 1.000 1 2004 2004
dbSNP: rs771541567
rs771541567
APOB
4 0.851 0.120 2 21029900 missense variant G/A;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2009 2009