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: rs1049296
rs1049296
TF
4 0.882 0.120 3 133775510 missense variant C/T snv 0.16 0.14 0.800 1.000 1 2011 2011
dbSNP: rs1534166
rs1534166
SRPRB
2 3 133818223 intron variant A/G snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs1799899
rs1799899
TF
2 1.000 0.080 3 133756968 missense variant G/A snv 5.2E-02 4.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 1 2011 2011
dbSNP: rs2749097
rs2749097 		1 1 63661797 downstream gene variant C/G snv 0.19 0.800 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.800 1.000 1 2011 2011
dbSNP: rs4758317
rs4758317
LMO1 ; LOC105376536
1 11 8229264 intron variant C/A snv 0.57 0.800 1.000 1 2013 2013
dbSNP: rs59677118
rs59677118
NFIB
1 9 14441679 intron variant G/A snv 7.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs6943555
rs6943555
AUTS2
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs10051330
rs10051330
LINC02227
2 5 158392616 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10066168
rs10066168
HAVCR1
2 5 157057207 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10092965
rs10092965 		2 8 8515975 intergenic variant A/G snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs10127775
rs10127775
GALNT2
4 1 230160042 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10176901
rs10176901
ABCB11
2 2 168974151 intron variant G/A snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs10184428
rs10184428 		5 2 164155317 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10249276
rs10249276 		1 7 118938630 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10255839
rs10255839
EVX1
6 7 27249498 intron variant G/A snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs10281955
rs10281955 		1 7 118944637 intergenic variant G/A snv 0.86 0.700 1.000 1 2012 2012
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