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: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs6919908
rs6919908
HLA-B ; USP8P1
3 0.882 0.160 6 31277183 non coding transcript exon variant T/C snv 0.83 0.700 1.000 1 2015 2015
dbSNP: rs11086029
rs11086029
KLF2
1 1.000 0.160 19 16327850 3 prime UTR variant T/A snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs3132523
rs3132523
POU5F1
1 1.000 0.160 6 31169055 intron variant T/C snv 0.78 0.700 1.000 1 2013 2013
dbSNP: rs4240807
rs4240807 		4 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs1716996
rs1716996
ULK4
1 1.000 0.160 3 41882802 intron variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs794894
rs794894 		1 1.000 0.160 3 41990991 intergenic variant C/T snv 0.74 0.700 1.000 1 2013 2013
dbSNP: rs210143
rs210143
BAK1 ; GGNBP1
6 0.827 0.160 6 33579153 intron variant T/C snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs1716653
rs1716653
ULK4
1 1.000 0.160 3 41934106 intron variant C/A snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs3934103
rs3934103
ULK4
1 1.000 0.160 3 41935722 intron variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs7616780
rs7616780
ULK4
1 1.000 0.160 3 41930067 intron variant G/A snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs1716987
rs1716987
ULK4
1 1.000 0.160 3 41929024 intron variant A/G snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs1716648
rs1716648
ULK4
1 1.000 0.160 3 41931357 intron variant G/A snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs1612124
rs1612124
ULK4
1 1.000 0.160 3 41926401 intron variant C/A snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs1716990
rs1716990
ULK4
1 1.000 0.160 3 41930717 intron variant C/T snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs1716644
rs1716644
ULK4
1 1.000 0.160 3 41926536 intron variant A/G snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs1716989
rs1716989
ULK4
1 1.000 0.160 3 41930694 intron variant C/T snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs3094663
rs3094663
PSORS1C1 ; PSORS1C2
1 1.000 0.160 6 31139310 non coding transcript exon variant T/C snv 0.72 0.700 1.000 1 2013 2013
dbSNP: rs2285803
rs2285803
PSORS1C1 ; PSORS1C2
2 0.925 0.160 6 31139481 intron variant T/C snv 0.72 0.810 1.000 2 2013 2014
dbSNP: rs7634985
rs7634985 		1 1.000 0.160 3 41978073 downstream gene variant C/T snv 0.72 0.700 1.000 1 2013 2013
dbSNP: rs3130454
rs3130454
PSORS1C2
1 1.000 0.160 6 31140708 upstream gene variant G/A snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs1672753
rs1672753
CRBN
4 0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2011 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2016 2018
dbSNP: rs11717540
rs11717540
ULK4
1 1.000 0.160 3 41891446 intron variant G/A snv 0.69 0.700 1.000 1 2011 2011