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: rs616338
rs616338
ABI3
2 0.925 0.080 17 49219935 missense variant T/C snv 0.99 0.99 0.020 1.000 2 2017 2018
dbSNP: rs2962508
rs2962508
LARS1
1 1.000 0.080 5 146158952 intron variant T/C snv 0.99 0.700 1.000 1 2016 2016
dbSNP: rs4557697
rs4557697
NKAIN3
1 1.000 0.080 8 62931072 intron variant G/A snv 0.99 0.700 1.000 1 2016 2016
dbSNP: rs4844609
rs4844609
CR1
1 1.000 0.080 1 207609571 missense variant A/T snv 0.99 0.99 0.010 1.000 1 2013 2013
dbSNP: rs3850930
rs3850930
TRIM51CP
1 1.000 0.080 11 48948392 non coding transcript exon variant A/G snv 0.98 0.700 1.000 1 2016 2016
dbSNP: rs2409317
rs2409317
N6AMT1
1 1.000 0.080 21 28702102 intergenic variant C/T snv 0.97 0.700 1.000 1 2016 2016
dbSNP: rs908832
rs908832
ABCA2
4 0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96 0.030 1.000 3 2005 2013
dbSNP: rs2445130
rs2445130
HSPG2
1 1.000 0.080 1 21911229 intron variant A/G snv 0.93 0.700 1.000 1 2016 2016
dbSNP: rs2852894
rs2852894 		1 1.000 0.080 11 102284743 intergenic variant A/G snv 0.93 0.800 1.000 1 2011 2011
dbSNP: rs982100
rs982100 		1 1.000 0.080 2 117717968 intergenic variant A/G snv 0.93 0.700 1.000 1 2016 2016
dbSNP: rs714948
rs714948
PVR ; CEACAM19 ; LOC107985305
1 1.000 0.080 19 44662645 3 prime UTR variant A/C snv 0.92 0.700 1.000 2 2011 2014
dbSNP: rs3211892
rs3211892
CD36
2 1.000 0.080 7 80661053 intron variant A/G snv 0.97 0.92 0.010 1.000 1 2017 2017
dbSNP: rs56261258
rs56261258
PVR ; LOC107985305
1 1.000 0.080 19 44646342 intron variant T/C snv 0.92 0.700 1.000 1 2018 2018
dbSNP: rs8105340
rs8105340
NECTIN2
1 1.000 0.080 19 44864520 intron variant C/T snv 0.91 0.700 1.000 1 2011 2011
dbSNP: rs4576506
rs4576506 		2 0.925 0.120 9 31546474 intergenic variant A/G snv 0.91 0.800 1.000 1 2012 2012
dbSNP: rs8112526
rs8112526
NECTIN2
1 1.000 0.080 19 44857505 intron variant A/G snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs662799
rs662799
APOA5
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs7539409
rs7539409
LINC01725
1 1.000 0.080 1 83789052 intron variant G/A snv 0.90 0.800 1.000 1 2010 2010
dbSNP: rs79638902
rs79638902
LOC107985305
1 1.000 0.080 19 44718495 non coding transcript exon variant T/C snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs8019381
rs8019381
NRXN3
1 1.000 0.080 14 79854240 intron variant T/C snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs4844610
rs4844610
CR1
1 1.000 0.080 1 207629207 intron variant A/C snv 0.87 0.710 1.000 2 2011 2012
dbSNP: rs6491411
rs6491411
FARP1
1 1.000 0.080 13 98252314 intron variant T/A snv 0.87 0.700 1.000 1 2016 2016
dbSNP: rs3118570
rs3118570
RXRA
1 1.000 0.080 9 134429009 intron variant G/T snv 0.86 0.010 1.000 1 2009 2009
dbSNP: rs11118328
rs11118328
CR1L
1 1.000 0.080 1 207677194 intron variant C/T snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs1536475
rs1536475
RXRA
1 1.000 0.080 9 134429310 intron variant A/G snv 0.86 0.010 1.000 1 2009 2009