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: rs5875374
rs5875374 		2 6 32459228 downstream gene variant -/AC delins 0.72 0.700 1.000 1 2016 2016
dbSNP: rs34018670
rs34018670 		2 16 80809337 upstream gene variant -/AG delins 0.17 0.700 1.000 1 2016 2016
dbSNP: rs75900305
rs75900305
MYO16 ; LOC105370356
2 13 109159737 intron variant -/C delins 0.25 0.700 1.000 1 2016 2016
dbSNP: rs3216780
rs3216780
CSF1R
2 5 150053837 3 prime UTR variant -/C;T ins 0.700 1.000 1 2016 2016
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs58904263
rs58904263 		2 20 31813603 upstream gene variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs34993178
rs34993178
IRF8
2 16 85900909 intron variant -/T delins 0.15 0.700 1.000 1 2016 2016
dbSNP: rs35761782
rs35761782
POC1B
2 12 89504600 intron variant -/T delins 0.70 0.700 1.000 1 2016 2016
dbSNP: rs115007843
rs115007843
SCD5
2 4 82654059 intron variant A/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs11686139
rs11686139 		2 2 226426699 intergenic variant A/C snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs2712381
rs2712381
RPN1
2 3 128619757 downstream gene variant A/C snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs6429432
rs6429432
LINC02768 ; LOC105373215
2 1 235943941 upstream gene variant A/C snv 0.93 0.700 1.000 1 2016 2016
dbSNP: rs7041895
rs7041895 		3 1.000 0.040 9 22162795 intergenic variant A/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs865483
rs865483
DUSP14
2 17 37491071 intron variant A/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs2239630
rs2239630
CEBPE
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 0.700 1.000 2 2016 2018
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12973608
rs12973608 		2 19 18287220 upstream gene variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs7288670
rs7288670
GGT5
4 22 24225858 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2228468
rs2228468
ACKR2 ; CYP8B1 ; KRBOX1
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.700 1.000 3 2013 2018
dbSNP: rs2062225
rs2062225
ACOXL
2 2 110993295 intron variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4474742
rs4474742
SSH2
2 17 29738560 intron variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7487827
rs7487827
NINJ2 ; NINJ2-AS1
2 12 642453 intron variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10168795
rs10168795
DOCK10
2 2 224888625 intron variant A/G snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs11189181
rs11189181
RRP12
2 10 97384397 intron variant A/G snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs114208039
rs114208039
HLA-B ; HLA-C
2 6 31273862 intron variant A/G snv 0.700 1.000 1 2018 2018