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: rs10433415
rs10433415 		1 3 133566686 intergenic variant G/T snv 0.57 0.700 1.000 1 2011 2011
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: rs10503387
rs10503387 		2 8 9293015 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10713774
rs10713774 		3 4 26048829 intergenic variant C/- del 0.18 0.700 1.000 1 2019 2019
dbSNP: rs10734252
rs10734252 		3 1.000 0.080 11 17383292 non coding transcript exon variant G/A snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs10741534
rs10741534 		2 11 11233360 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10744826
rs10744826
UBE3B
3 12 109527707 intron variant C/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs10750766
rs10750766 		4 11 65706327 regulatory region variant C/A snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs10761716
rs10761716 		3 10 63122540 downstream gene variant C/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs10766309
rs10766309
SOX6
2 11 16235171 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10769254
rs10769254
MYBPC3
4 11 47340914 intron variant G/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs10826334
rs10826334 		3 10 59620724 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10832961
rs10832961
SPTY2D1
2 11 18632410 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10840138
rs10840138
MRPL23
2 11 1980665 intron variant T/C snv 8.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs10841530
rs10841530
PDE3A
2 12 20446178 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10897164
rs10897164
LRRC10B
3 11 61510303 3 prime UTR variant A/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs1090107
rs1090107
NEIL2
2 8 11775019 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10935068
rs10935068 		1 3 133543963 upstream gene variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10935070
rs10935070
TOPBP1
1 3 133623144 missense variant T/C;G snv 0.29; 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs10935073
rs10935073
TF ; INHCAP
1 3 133720340 intron variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs10953881
rs10953881 		1 7 118968071 intergenic variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10953885
rs10953885 		1 7 118968349 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10955992
rs10955992 		2 8 120860224 intergenic variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10957054
rs10957054
UBXN2B
3 8 58423997 intron variant C/T snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs11023906
rs11023906
SOX6
3 11 16302860 intron variant G/A snv 0.17 0.700 1.000 1 2018 2018