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: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs3850625
rs3850625
CACNA1S
3 1 201047168 missense variant G/A snv 0.12 8.9E-02 0.700 1.000 2 2016 2017
dbSNP: rs10127790
rs10127790
SORT1
2 1 109348511 intron variant C/T snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs10874312
rs10874312 		3 1 82478888 intron variant G/A snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs12136063
rs12136063
SYPL2
2 1 109471548 intron variant G/A snv 0.60 0.700 1.000 1 2016 2016
dbSNP: rs12144044
rs12144044
RHOC
2 1 112706169 5 prime UTR variant C/A;G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs1800615
rs1800615
CASP9
2 1 15505786 intron variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs267738
rs267738
CERS2
4 1.000 0.040 1 150968149 missense variant T/A;G snv 4.0E-06; 0.15 0.700 1.000 1 2017 2017
dbSNP: rs2802729
rs2802729
SDCCAG8
2 1 243338461 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2990246
rs2990246
GBAP1
2 1 155227811 upstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs34720381
rs34720381
PRRC2C
4 1 171486183 intron variant C/T snv 7.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs548873184
rs548873184
LINC00626
1 1 168785175 intron variant G/A;T snv 1.3E-04 0.700 1.000 1 2017 2017
dbSNP: rs573421908
rs573421908
SLC35F3
1 1 234284757 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs7546668
rs7546668
DNAJC16
2 1 15528628 intron variant G/A;C snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs9887774
rs9887774 		1 1 23375891 downstream gene variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2017 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 2010 2016
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 2 2010 2016
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 2 2010 2016
dbSNP: rs807601
rs807601 		2 2 15652890 intergenic variant G/T snv 0.48 0.700 1.000 2 2016 2017
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.700 1.000 1 2010 2010
dbSNP: rs11123169
rs11123169
PSD4
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs142093111
rs142093111
LRP2
1 2 169188258 missense variant G/A snv 1.7E-04 2.2E-04 0.700 1.000 1 2018 2018