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: rs28601761
rs28601761 		13 1.000 0.040 8 125487789 intron variant C/G snv 0.37 0.700 1.000 2 2019 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 2019 2019
dbSNP: rs10172053
rs10172053 		2 2 210779923 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10184004
rs10184004 		5 1.000 0.080 2 164651879 downstream gene variant C/T snv 0.48 0.700 1.000 1 2019 2019
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 2019 2019
dbSNP: rs10740134
rs10740134
REEP3
1 10 63555673 intron variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10900807
rs10900807
IRF1-AS1 ; LINC02863
1 5 132421788 intron variant G/C snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs113626350
rs113626350
UHRF2
1 9 6490491 intron variant G/A snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs115683961
rs115683961
ERBB4
1 2 211521195 intron variant A/G snv 3.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11647428
rs11647428
PKD1L2
1 16 81116954 intron variant A/G snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs11860711
rs11860711 		1 16 81098888 upstream gene variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs12003835
rs12003835
PTPRD
1 9 8424378 intron variant G/T snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs12126607
rs12126607
ACADM
1 1 75751412 intron variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs12297321
rs12297321 		1 12 46715604 intron variant C/T snv 0.15 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: rs13299380
rs13299380 		1 9 6078779 intergenic variant C/T snv 4.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs141015398
rs141015398
ENPP7P4 ; LINC02614
1 3 125899882 intron variant A/G snv 5.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs143119940
rs143119940
GLDC
1 9 6554781 missense variant C/A;G snv 6.4E-03; 4.1E-06 0.700 1.000 1 2019 2019
dbSNP: rs143424675
rs143424675 		1 4 72883702 intergenic variant C/A;T snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs148685782
rs148685782
FGG
4 1.000 0.080 4 154611883 missense variant G/C snv 1.9E-03 2.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs1509820
rs1509820
CPS1
1 2 210521760 intron variant G/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs156380
rs156380
ARL15
1 5 54082620 intron variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1657863
rs1657863 		2 2 210995002 intergenic variant T/G snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs16954688
rs16954688
PKD1L2
1 16 81123203 non coding transcript exon variant G/A snv 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs17591030
rs17591030
GLDC
1 9 6550024 intron variant C/A;T snv 0.700 1.000 1 2019 2019