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: rs759549373
rs759549373
DYNC2H1
4 0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs771487311
rs771487311
DYNC2H1
5 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 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: rs137853027
rs137853027
DYNC2H1
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
dbSNP: rs1561002040
rs1561002040
RAB33B ; LOC107984036
4 1.000 4 139454380 frameshift variant C/- delins 0.700 0
dbSNP: rs1565311145
rs1565311145
DYNC2H1
7 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
dbSNP: rs1565317399
rs1565317399
DYNC2H1
6 0.882 0.120 11 103122879 stop gained C/T snv 0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
9 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
dbSNP: rs1566883760
rs1566883760
KIAA0586
5 0.925 0.120 14 58487978 frameshift variant T/- delins 0.700 0
dbSNP: rs201948500
rs201948500
DYNC2LI1
4 0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 0.700 0
dbSNP: rs371011047
rs371011047
DYNC2H1
9 0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 0.700 0
dbSNP: rs374356079
rs374356079
DYNC2LI1
4 0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs376892534
rs376892534
DYNC2H1
6 0.925 0.120 11 103184880 intron variant G/A snv 8.1E-06 0.700 0
dbSNP: rs747165335
rs747165335
WDR19
5 0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
8 0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05 0.700 0
dbSNP: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs758522600
rs758522600
BBS10
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
dbSNP: rs764926983
rs764926983
DYNC2H1
9 0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 0.700 0
dbSNP: rs765795867
rs765795867
COL2A1
2 12 47978098 missense variant C/A;T snv 0.700 0
dbSNP: rs767846762
rs767846762
DYNC2H1
7 0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 0.700 0
dbSNP: rs769975073
rs769975073
DYNC2LI1
4 0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs771148519
rs771148519
WDR19
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs879255655
rs879255655
DYNC2LI1 ; ABCG5
4 0.882 0.120 2 43809711 stop gained G/T snv 0.700 0