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: rs201037487
rs201037487
FAM98C
7 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 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: 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: rs758522600
rs758522600
BBS10
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-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: rs786205645
rs786205645
NEK1
9 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
dbSNP: rs879255655
rs879255655
DYNC2LI1 ; ABCG5
4 0.882 0.120 2 43809711 stop gained G/T snv 0.700 0
dbSNP: rs879255656
rs879255656
DYNC2LI1
4 0.882 0.120 2 43805249 splice region variant A/G snv 0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
dbSNP: rs886039812
rs886039812
DYNC2H1
7 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
dbSNP: rs886039815
rs886039815
TCTEX1D2
5 0.851 0.320 3 196306939 splice region variant T/A snv 0.700 0