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: rs13245899
rs13245899 		1 7 100899511 upstream gene variant A/G snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs2067615
rs2067615
RFX4 ; LOC100287944
1 12 106755644 intron variant A/T snv 0.63 0.800 1.000 1 2013 2013
dbSNP: rs11065706
rs11065706
PPP1CC
1 12 110717726 downstream gene variant T/C snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs11153730
rs11153730 		4 6 118346359 intergenic variant T/C snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs11968176
rs11968176
CEP85L ; LOC107986524
1 6 118579777 intron variant C/A snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs17083533
rs17083533 		1 6 121409576 intergenic variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs11154027
rs11154027 		3 1.000 0.080 6 121460244 intergenic variant T/C snv 0.61 0.800 1.000 1 2013 2013
dbSNP: rs1015451
rs1015451
LOC105377979
1 6 121810339 intergenic variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs12110693
rs12110693
LOC105377979
2 6 121837124 intergenic variant G/A snv 0.23 0.700 1.000 1 2009 2009
dbSNP: rs6470258
rs6470258
MTSS1
1 8 124670801 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs189919070
rs189919070
MIR4788
3 1.000 0.040 3 134436825 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7461108
rs7461108 		1 8 134945091 intergenic variant A/G snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs2350782
rs2350782
CHRM2 ; LOC349160
1 7 136957887 intron variant T/C snv 0.10 0.800 1.000 1 2013 2013
dbSNP: rs7722600
rs7722600
LOC101928005 ; LOC107986368
1 5 137859073 non coding transcript exon variant A/G snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs139130723
rs139130723 		3 1.000 0.040 6 14411553 intergenic variant A/G snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs142803096
rs142803096 		3 1.000 0.040 6 14420151 intergenic variant G/C snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs149447933
rs149447933
LOC101928331 ; LOC105374942
3 1.000 0.040 6 14453908 intron variant C/G snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs12531027
rs12531027
AGMO
2 7 15296311 intron variant T/C snv 0.10 0.700 1.000 1 2012 2012
dbSNP: rs2364349
rs2364349
SNX9
1 6 157939659 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs4274995
rs4274995 		1 5 162971455 intron variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs6822628
rs6822628
MARCHF1
1 4 164148204 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs17044565
rs17044565
MARCHF1
1 4 164148585 intron variant T/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs723730
rs723730
MARCHF1
1 4 164154356 intron variant A/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs6835078
rs6835078
MARCHF1
1 4 164155752 intron variant C/T snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs6840738
rs6840738
MARCHF1
1 4 164156275 intron variant A/C snv 0.20 0.700 1.000 1 2018 2018