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: rs2657879
rs2657879
GLS2 ; SPRYD4
9 1.000 0.080 12 56471554 missense variant A/G snv 0.17 0.15 0.700 1.000 3 2015 2019
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 2016
dbSNP: rs2238732
rs2238732
PRODH
7 22 18927834 intron variant C/G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs715
rs715
CPS1
13 1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 0.700 1.000 2 2015 2019
dbSNP: rs10083777
rs10083777
CENPN ; LOC107984858
2 16 81031677 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs10172053
rs10172053 		2 2 210779923 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10211524
rs10211524
LINC02245 ; LOC107984063
4 2 64980940 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs10265221
rs10265221
PRKAG2
3 7 151717243 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10437868
rs10437868
NAV3
2 12 77508538 intron variant T/C snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs10466351
rs10466351 		3 11 92964815 upstream gene variant C/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs116267673
rs116267673 		2 22 18902454 upstream gene variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs11761352
rs11761352 		2 7 55883254 upstream gene variant C/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs11766051
rs11766051
PSPHP1
2 7 55770852 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs117936590
rs117936590 		2 3 161421071 TF binding site variant C/T snv 2.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs12297049
rs12297049
PAH
1 12 102857897 intron variant C/T snv 0.65 0.700 1.000 1 2015 2015
dbSNP: rs12586774
rs12586774
LINC02306
2 14 25660360 intron variant G/T snv 3.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs12587001
rs12587001
LOC105370708
2 14 104135840 upstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12613336
rs12613336 		6 2 210704675 regulatory region variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs12671091
rs12671091
MRPS17
2 7 55950973 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs13244654
rs13244654
SUMF2
4 7 56079263 intron variant T/C snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs140348140
rs140348140
KIAA2026
2 9 5877295 downstream gene variant -/A delins 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs1420601
rs1420601 		1 16 49051738 intergenic variant T/C snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs14399
rs14399
SLC16A10
3 6 111222741 3 prime UTR variant C/A snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs1440581
rs1440581
PPM1K-DT
4 1.000 0.080 4 88305270 intron variant T/A;C snv 0.700 1.000 1 2016 2016