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: rs112233623
rs112233623
CCND3
5 6 41957260 intron variant C/T snv 7.0E-03 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: rs115849089
rs115849089 		7 8 20054859 intergenic variant G/A snv 9.8E-02 0.700 1.000 2 2016 2017
dbSNP: rs1175550
rs1175550
SMIM1
5 1 3774964 intron variant A/G snv 0.31 0.700 1.000 2 2017 2019
dbSNP: rs11756659
rs11756659 		4 6 25933704 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs11784833
rs11784833
GRINA ; PARP10
3 8 143989244 intron variant T/C snv 0.27 0.700 1.000 2 2017 2019
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: rs12050884
rs12050884
EIF2AK4
4 15 40014133 intron variant C/A snv 0.25 0.700 1.000 2 2016 2019
dbSNP: rs12505188
rs12505188 		2 4 152741087 intergenic variant T/C snv 0.38 0.700 1.000 2 2016 2017
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2016 2019
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: rs144204502
rs144204502
TK1 ; AFMID
4 17 78187152 5 prime UTR variant C/G;T snv 1.2E-02 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: rs1505307
rs1505307
THRB
7 3 24301839 intron variant T/C snv 0.60 0.700 1.000 2 2016 2019
dbSNP: rs174559
rs174559
FADS1 ; FADS2
3 11 61814184 non coding transcript exon variant G/A snv 0.23 0.700 1.000 2 2017 2019
dbSNP: rs17462448
rs17462448
SOX6
3 11 16338021 intron variant G/A snv 5.6E-02 0.700 1.000 2 2016 2017
dbSNP: rs17476364
rs17476364
HK1
8 10 69334748 intron variant T/C snv 6.4E-02 0.700 1.000 2 2016 2019
dbSNP: rs187282666
rs187282666
SLC12A7
2 5 1093396 intron variant G/A snv 2.3E-03 0.700 1.000 2 2016 2017
dbSNP: rs1958078
rs1958078
SMOC1
4 14 69888141 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs2022003
rs2022003
SPTA1
5 1 158617176 intron variant A/T snv 0.28 0.700 1.000 2 2017 2019
dbSNP: rs2157770
rs2157770
BRD3 ; LOC100130548
3 9 134056342 intron variant A/G snv 0.33 0.700 1.000 2 2017 2019