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: rs137853027
rs137853027
DYNC2H1
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 1.000 4 2009 2018
dbSNP: rs397514637
rs397514637
DYNC2H1
2 0.925 0.120 11 103117852 missense variant C/T snv 3.2E-05 1.4E-05 0.700 1.000 3 2012 2018
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 1.000 2 2011 2014
dbSNP: rs1553508246
rs1553508246
TTC21B
2 0.925 0.200 2 165898769 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1555096711
rs1555096711
DYNC2H1
1 1.000 0.120 11 103307833 splice donor variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1555531363
rs1555531363
KIAA0753
2 0.925 0.240 17 6620832 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1565371538
rs1565371538
DYNC2H1
1 1.000 0.120 11 103179234 splice donor variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs181011657
rs181011657
DYNC2H1
3 0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs746068882
rs746068882
KIAA0753
2 0.925 0.240 17 6623016 stop gained G/A;C snv 1.6E-05; 7.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs762771340
rs762771340
KIAA0753
2 0.925 0.240 17 6623043 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1178331074
rs1178331074
DYNC2H1
2 0.925 0.120 11 103129005 splice region variant G/A snv 4.2E-06 0.700 0
dbSNP: rs1191056931
rs1191056931
WDR19
1 1.000 0.120 4 39274959 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1196317554
rs1196317554
DYNC2H1
1 1.000 0.120 11 103199400 missense variant T/C snv 8.1E-06 5.6E-05 0.700 0
dbSNP: rs1215108056
rs1215108056
WDR19
1 1.000 0.120 4 39224887 missense variant G/C snv 8.3E-06 0.700 0
dbSNP: rs1218198013
rs1218198013
DYNC2H1
1 1.000 0.120 11 103236479 frameshift variant AAAAG/- delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1223907858
rs1223907858
DYNC2H1
1 1.000 0.120 11 103121029 frameshift variant TTAA/- delins 2.8E-05 0.700 0
dbSNP: rs1236962991
rs1236962991
LBR
1 1.000 0.120 1 225411351 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1260978141
rs1260978141
DYNC2H1
8 1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06 0.700 0
dbSNP: rs1309577378
rs1309577378
DYNC2H1
1 1.000 0.120 11 103135524 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs1350329646
rs1350329646
DYNC2H1
2 0.925 0.120 11 103192150 missense variant C/A;T snv 5.1E-06; 5.1E-06 0.700 0
dbSNP: rs137853031
rs137853031
DYNC2H1
2 0.925 0.120 11 103185032 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs138004478
rs138004478
IFT80 ; TRIM59-IFT80
3 0.882 0.120 3 160356069 missense variant C/G;T snv 6.8E-05 0.700 0
dbSNP: rs1380132788
rs1380132788
DYNC2H1
1 1.000 0.120 11 103177605 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs1401798992
rs1401798992
RNF111 ; SLTM
1 1.000 0.120 15 58887316 missense variant G/C;T snv 7.0E-06 0.700 0
dbSNP: rs1453462442
rs1453462442
TTC21B
1 1.000 0.120 2 165924668 missense variant G/T snv 7.0E-06 0.700 0