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: rs431905508
rs431905508
NEK1
1 1.000 0.080 4 169589478 missense variant C/T snv 0.800 0
dbSNP: rs199947197
rs199947197
NEK1
3 0.925 0.160 4 169424668 stop gained G/C snv 1.2E-04 8.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs1157065841
rs1157065841
NEK1
1 1.000 0.080 4 169400242 missense variant T/C;G snv 4.9E-06 7.0E-06 0.700 0
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: rs1261505725
rs1261505725
DYNC2H1
2 0.925 0.080 11 103245376 splice donor variant T/G snv 5.0E-06 2.1E-05 0.700 0
dbSNP: rs1362848762
rs1362848762
NEK1
1 1.000 0.080 4 169507758 frameshift variant C/- del 0.700 0
dbSNP: rs137852924
rs137852924
EVC2
3 0.882 0.160 4 5640789 stop gained G/A snv 4.8E-05 3.5E-05 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: rs1553516687
rs1553516687
TTC21B ; TTC21B-AS1
1 1.000 0.080 2 165949615 missense variant G/T snv 0.700 0
dbSNP: rs1554053289
rs1554053289
NEK1
1 1.000 0.080 4 169508311 frameshift variant CC/- del 0.700 0
dbSNP: rs1554075284
rs1554075284
NEK1
1 1.000 0.080 4 169587563 frameshift variant GTTT/- delins 0.700 0
dbSNP: rs1554075506
rs1554075506
NEK1
1 1.000 0.080 4 169588686 missense variant G/A snv 0.700 0
dbSNP: rs372499275
rs372499275
TRAF3IP1
1 1.000 0.080 2 238333959 splice acceptor variant G/A;C snv 4.2E-06 0.700 0
dbSNP: rs387906890
rs387906890
NEK1
1 1.000 0.080 4 169590743 stop gained G/A;C snv 3.2E-05 0.700 0
dbSNP: rs483352906
rs483352906
NEK1
1 1.000 0.080 4 169577081 splice acceptor variant T/C snv 0.700 0
dbSNP: rs548706733
rs548706733
FUZ
1 1.000 0.080 19 49812987 splice donor variant AGGCCCCACCTGCTGACGGGCGG/- del 6.7E-06 9.8E-05 0.700 0
dbSNP: rs748523193
rs748523193
EVC
2 0.925 0.120 4 5729369 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs750338419
rs750338419
IFT172
3 0.882 0.080 2 27459399 stop gained -/T delins 1.2E-05 0.700 0
dbSNP: rs752878896
rs752878896
NEK1
1 1.000 0.080 4 169433613 frameshift variant TGTT/- delins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs755381180
rs755381180
EVC
3 0.882 0.160 4 5745303 inframe deletion AAG/- delins 1.6E-05 2.8E-05 0.700 0
dbSNP: rs758677637
rs758677637
NEK1
1 1.000 0.080 4 169537856 stop gained G/A snv 8.1E-06 0.700 0
dbSNP: rs759648976
rs759648976
TTC21B
1 1.000 0.080 2 165953686 stop gained -/CACCCGC ins 0.700 0
dbSNP: rs769651861
rs769651861
TRAF3IP1
1 1.000 0.080 2 238325351 missense variant G/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs769864196
rs769864196
EVC2
3 0.882 0.120 4 5631795 stop gained G/A snv 3.2E-05 4.9E-05 0.700 0
dbSNP: rs771487311
rs771487311
DYNC2H1
5 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 0