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: rs11451044
rs11451044
COPZ1
1 12 54322000 intron variant -/A ins 0.68 0.700 1.000 1 2016 2016
dbSNP: rs5833486
rs5833486
PSD4
1 2 113199603 intron variant -/A delins 0.29 0.700 1.000 1 2016 2016
dbSNP: rs144658219
rs144658219
CD36
1 7 80667649 intron variant -/ACTTGATT delins 0.34 0.700 1.000 1 2016 2016
dbSNP: rs35385468
rs35385468 		5 0.925 0.120 6 26101212 upstream gene variant -/C delins 9.7E-03 0.700 1.000 1 2009 2009
dbSNP: rs386406569
rs386406569 		5 0.925 0.120 6 26101212 upstream gene variant -/C delins 0.700 1.000 1 2009 2009
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs140307022
rs140307022
CLCNKB
1 1 16043683 upstream gene variant -/GTCTG;TTCTG delins 0.700 1.000 1 2016 2016
dbSNP: rs113700287
rs113700287
THRB
4 3 24293020 intron variant -/GTT delins 0.700 1.000 1 2016 2016
dbSNP: rs111721712
rs111721712
HLA-B
1 6 31347630 intron variant -/T delins 0.55 0.700 1.000 1 2016 2016
dbSNP: rs11428167
rs11428167 		1 3 196184704 intergenic variant -/T delins 0.13 0.700 1.000 1 2016 2016
dbSNP: rs67250268
rs67250268
H2AC6
4 6 26135269 intron variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs35014657
rs35014657 		1 2 62167634 upstream gene variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs4953318
rs4953318
PRKCE
5 2 46127912 intron variant A/C snv 0.43 0.800 1.000 2 2009 2017
dbSNP: rs592423
rs592423 		6 6 139519556 intron variant A/C snv 0.50 0.800 1.000 2 2009 2016
dbSNP: rs1011167
rs1011167
SP4
1 7 21489977 intron variant A/C snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs1021797
rs1021797
ITPR2
1 12 26413499 intron variant A/C snv 4.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs10457631
rs10457631 		2 6 135124041 intergenic variant A/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs10769263
rs10769263
SPI1
1 11 47395632 non coding transcript exon variant A/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs11136012
rs11136012 		1 8 27842198 upstream gene variant A/C snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs11244669
rs11244669
DHX32 ; BCCIP
4 10 125844213 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs1150660
rs1150660 		5 0.925 0.120 6 26101212 upstream gene variant A/C snv 0.73 0.700 1.000 1 2009 2009
dbSNP: rs117849885
rs117849885 		1 11 103020694 intergenic variant A/C snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs118097312
rs118097312
C2 ; CYP21A2 ; EHMT2
1 6 31898356 intron variant A/C snv 2.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs12196049
rs12196049 		2 6 121464945 intergenic variant A/C snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs12315434
rs12315434
R3HDM2
2 1.000 0.040 12 57387153 intron variant A/C snv 0.16 0.700 1.000 1 2019 2019