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: rs10923398
rs10923398 		2 1 117708553 regulatory region variant A/C snv 0.16 0.700 1.000 3 2016 2019
dbSNP: rs2068229
rs2068229
ATP1B3
2 3 141904462 intron variant A/G snv 0.35 0.700 1.000 3 2016 2019
dbSNP: rs7148979
rs7148979
ALDH6A1 ; BBOF1
2 14 74080615 intron variant T/A snv 0.17 0.700 1.000 3 2016 2019
dbSNP: rs8050500
rs8050500
ITGAD
2 16 31393250 upstream gene variant T/C snv 0.45 0.700 1.000 3 2016 2019
dbSNP: rs9898189
rs9898189
FOXK2
2 17 82522640 intron variant C/A;G snv 0.700 1.000 3 2016 2019
dbSNP: rs10210385
rs10210385
LINC01122
2 2 58770577 intron variant T/C snv 0.40 0.700 1.000 2 2017 2019
dbSNP: rs10405535
rs10405535
PDCD5
2 19 32581179 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs1046321
rs1046321
PEX12
2 17 35575265 3 prime UTR variant T/C snv 0.38 0.700 1.000 2 2016 2017
dbSNP: rs10988207
rs10988207
CRAT
2 9 129104851 intron variant G/A;C;T snv 0.700 1.000 2 2016 2017
dbSNP: rs11030967
rs11030967
RRM1
2 11 4107890 intron variant C/T snv 0.51 0.700 1.000 2 2016 2019
dbSNP: rs11133613
rs11133613
SLC12A7
2 5 1074936 intron variant A/G snv 0.91 0.700 1.000 2 2016 2017
dbSNP: rs111910553
rs111910553
SLC12A7
2 5 1058272 intron variant G/A snv 1.1E-02 0.700 1.000 2 2016 2017
dbSNP: rs11265038
rs11265038
SPTA1
2 1 158626052 intron variant C/A snv 0.27 0.700 1.000 2 2016 2017
dbSNP: rs117893233
rs117893233 		2 5 1041318 downstream gene variant C/T snv 2.6E-03 0.700 1.000 2 2016 2017
dbSNP: rs11799474
rs11799474 		2 1 22377698 intergenic variant T/G snv 0.20 0.700 1.000 2 2016 2017
dbSNP: rs11851199
rs11851199
SPTB
2 14 64789470 intron variant A/G snv 6.5E-02 0.700 1.000 2 2016 2017
dbSNP: rs12505188
rs12505188 		2 4 152741087 intergenic variant T/C snv 0.38 0.700 1.000 2 2016 2017
dbSNP: rs140625215
rs140625215
SERTAD2
2 2 64632896 3 prime UTR variant TTCAAA/- delins 0.26 0.700 1.000 2 2016 2017
dbSNP: rs143845082
rs143845082
PLD1
2 3 171699780 missense variant G/A snv 3.4E-03 3.7E-03 0.700 1.000 2 2016 2017
dbSNP: rs144721045
rs144721045
UGCG
2 9 111924025 intron variant T/A snv 1.0E-02 0.700 1.000 2 2016 2017
dbSNP: rs149535568
rs149535568
PLD1
2 3 171724745 missense variant C/A snv 9.3E-04 9.8E-04 0.700 1.000 2 2016 2017
dbSNP: rs187282666
rs187282666
SLC12A7
2 5 1093396 intron variant G/A snv 2.3E-03 0.700 1.000 2 2016 2017
dbSNP: rs2178658
rs2178658 		2 7 87492706 intergenic variant G/C;T snv 0.24 0.700 1.000 2 2017 2019
dbSNP: rs2302783
rs2302783
PRKAR1A ; ARSG ; WIPI1
2 17 68450932 intron variant T/C snv 0.68 0.68 0.700 1.000 2 2017 2019
dbSNP: rs2578377
rs2578377
FAM114A2
2 5 154033830 missense variant C/T snv 0.68 0.65 0.700 1.000 2 2017 2019