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: rs753285226
rs753285226
HNF4A
5 0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs952497863
rs952497863
HNF4A
4 0.925 0.080 20 44414511 missense variant C/T snv 0.020 1.000 2 2014 2016
dbSNP: rs1240512008
rs1240512008
HNF4A
2 1.000 0.040 20 44413780 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs13038305
rs13038305
CST3
5 0.925 0.080 20 23629625 intron variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1309065326
rs1309065326
TGM2
2 1.000 0.040 20 38141383 missense variant T/C snv 5.4E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs181914932
rs181914932 		2 1.000 0.040 20 45932640 non coding transcript exon variant T/C snv 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1884613
rs1884613
LOC105372629
7 0.807 0.200 20 44351775 intron variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1884614
rs1884614
LOC105372629
5 0.882 0.080 20 44351879 non coding transcript exon variant C/T snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs200711626
rs200711626
PCSK2
3 0.925 0.080 20 17465411 missense variant C/T snv 8.8E-05 3.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs200998587
rs200998587
RBPJL
3 0.925 0.080 20 45314116 missense variant C/T snv 1.7E-03 4.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs2284912
rs2284912
PCSK2
2 1.000 0.040 20 17457568 intron variant T/C snv 1.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs2295490
rs2295490
TRIB3
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2866611
rs2866611 		16 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs3818247
rs3818247
HNF4A
3 0.925 0.080 20 44428840 intron variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs4810424
rs4810424
R3HDML
3 0.925 0.080 20 44346383 intron variant G/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs4810479
rs4810479 		7 1.000 0.040 20 45916409 upstream gene variant C/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs6044695
rs6044695
PCSK2 ; LOC105372546
2 1.000 0.040 20 17244293 intron variant A/T snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs753476712
rs753476712
HNF4A
2 1.000 0.040 20 44418452 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs754907741
rs754907741
HNF4A
2 1.000 0.040 20 44414567 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs760762
rs760762
PLCG1
16 0.851 0.120 20 41147406 intron variant C/A;T snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs763010207
rs763010207
HNF4A
3 0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs773661614
rs773661614
HNF4A
3 0.925 0.080 20 44406076 missense variant G/A snv 8.0E-06 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs779271027
rs779271027
HNF4A
2 1.000 0.040 20 44413723 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.030 1.000 3 2013 2015
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.710 1.000 2 2013 2016