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: rs1430999
rs1430999
MARCHF1
1 4 164164750 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1431001
rs1431001
MARCHF1
1 4 164164637 intron variant A/T snv 0.18 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: rs17044630
rs17044630
MARCHF1
1 4 164157441 intron variant T/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs17044711
rs17044711
MARCHF1
1 4 164172004 intron variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs1835507
rs1835507
MARCHF1
1 4 164190521 intron variant A/G snv 0.15 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: 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
dbSNP: rs723730
rs723730
MARCHF1
1 4 164154356 intron variant A/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs7659131
rs7659131
MARCHF1
1 4 164180839 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7673540
rs7673540
MARCHF1
1 4 164177450 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs985676
rs985676
MARCHF1
1 4 164156960 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs9991538
rs9991538
MARCHF1
1 4 164159680 intron variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs112434206
rs112434206 		3 1.000 0.040 5 33083283 intron variant A/C;G snv 7.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs114821210
rs114821210 		3 1.000 0.040 5 166089843 intergenic variant C/A snv 6.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs1700575
rs1700575
LOC105374647
3 1.000 0.040 5 8543925 intron variant A/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs4274995
rs4274995 		1 5 162971455 intron variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs541284506
rs541284506 		3 1.000 0.040 5 30425422 intergenic variant G/A snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs6882776
rs6882776
NKX2-5
2 1.000 0.080 5 173237160 upstream gene variant G/A snv 0.34 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: rs1015451
rs1015451
LOC105377979
1 6 121810339 intergenic variant T/A;C snv 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: rs11154027
rs11154027 		3 1.000 0.080 6 121460244 intergenic variant T/C snv 0.61 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