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: rs10127775
rs10127775
GALNT2
4 1 230160042 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10889332
rs10889332
DOCK7
4 1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs12040333
rs12040333
ST3GAL3
2 1.000 0.080 1 43848369 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1998013
rs1998013 		1 1 55492357 intron variant C/T snv 4.4E-03 0.700 1.000 1 2012 2012
dbSNP: rs2390582
rs2390582
LOC105378851
1 1 90478350 intergenic variant A/G snv 0.15 0.800 1.000 1 2007 2007
dbSNP: rs10211524
rs10211524
LINC02245 ; LOC107984063
4 2 64980940 intron variant G/A snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs113533135
rs113533135
LRP1B
2 1.000 0.080 2 140268867 intron variant T/C snv 2.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2012 2012
dbSNP: rs1532002
rs1532002
LRP1B
2 1.000 0.080 2 140292500 intron variant G/A snv 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs2680830
rs2680830
VSNL1
2 1.000 0.080 2 17596817 intron variant A/G;T snv 0.94 0.700 1.000 1 2017 2017
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2012 2012
dbSNP: rs673548
rs673548
APOB
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6754498
rs6754498
LOC107985783
2 1.000 0.080 2 185953121 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs749924
rs749924
LINC01880
1 2 242084344 upstream gene variant C/T snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs9973676
rs9973676
GPR55
2 1.000 0.080 2 230954091 intron variant G/A snv 5.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17404667
rs17404667
PRICKLE2
1 3 64288876 intron variant C/G snv 6.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs72928364
rs72928364
ABI3BP
2 1.000 0.080 3 100894935 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs741013
rs741013
PRICKLE2
1 3 64306961 intron variant A/T snv 6.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs12507628
rs12507628 		1 4 72779634 regulatory region variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs1440581
rs1440581
PPM1K-DT
4 1.000 0.080 4 88305270 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs16850360
rs16850360 		2 4 74006728 intron variant A/G snv 4.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs1851024
rs1851024 		1 4 71842104 intergenic variant G/A snv 0.93 0.700 1.000 1 2012 2012
dbSNP: rs1912826
rs1912826
KLKB1
4 4 186228386 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2168889
rs2168889 		1 4 74357994 intergenic variant A/G snv 4.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs7442201
rs7442201
NSG1
2 1.000 0.080 4 4360022 intron variant A/C;G snv 0.700 1.000 1 2017 2017