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: rs1403669200
rs1403669200
IFT140 ; LOC105371046
1 1.000 0.160 16 1592504 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 5 2012 2017
dbSNP: rs199826737
rs199826737
IFT140
2 0.925 0.160 16 1571494 missense variant C/T snv 1.3E-04 9.1E-05 0.800 1.000 5 2012 2017
dbSNP: rs201188361
rs201188361
IFT140 ; LOC105371046
2 0.925 0.240 16 1592176 missense variant C/G;T snv 4.0E-06; 4.8E-05 0.800 1.000 5 2012 2017
dbSNP: rs387907192
rs387907192
IFT140
2 0.925 0.160 16 1564074 missense variant C/T snv 4.0E-06 3.5E-05 0.800 1.000 5 2012 2017
dbSNP: rs387907193
rs387907193
IFT140 ; LOC105371046
1 1.000 0.160 16 1587275 missense variant T/C snv 0.800 1.000 5 2012 2017
dbSNP: rs431905520
rs431905520
IFT140
1 1.000 0.160 16 1518320 missense variant A/G snv 0.800 0
dbSNP: rs431905521
rs431905521
IFT140 ; LOC105371046
3 0.882 0.320 16 1587961 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.800 0
dbSNP: rs373111085
rs373111085
IFT140
1 1.000 0.160 16 1568260 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 5 2012 2017
dbSNP: rs1085307074
rs1085307074
IFT140 ; LOC105371046
1 1.000 0.160 16 1584409 frameshift variant C/- delins 0.700 1.000 1 2013 2013
dbSNP: rs140039128
rs140039128
IFT140 ; LOC105371046
1 1.000 0.160 16 1583369 stop gained C/T snv 8.8E-05 5.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs1417500285
rs1417500285
IFT140
2 0.925 0.240 16 1562007 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs1423102192
rs1423102192
IFT140
1 1.000 0.160 16 1526594 non coding transcript exon variant C/T snv 0.700 0
dbSNP: rs1555486629
rs1555486629
IFT140
1 1.000 0.160 16 1558056 stop gained G/A snv 0.700 0
dbSNP: rs1555491448
rs1555491448
IFT140 ; LOC105371046
2 0.925 0.160 16 1584257 missense variant A/G snv 0.700 0
dbSNP: rs376586707
rs376586707
IFT140
2 0.925 0.160 16 1557934 splice donor variant C/A snv 5.6E-05 5.6E-05 0.700 0
dbSNP: rs431905506
rs431905506
IFT140 ; LOC105371046
1 1.000 0.160 16 1587975 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs587776909
rs587776909
IFT140
2 0.925 0.240 16 1520004 frameshift variant -/C delins 3.5E-05 0.700 0
dbSNP: rs764770536
rs764770536
IFT140
2 0.925 0.320 16 1524551 splice donor variant C/A snv 4.1E-06 0.700 0
dbSNP: rs773372123
rs773372123
IFT140 ; LOC105371046
5 0.851 0.160 16 1587209 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs8058674
rs8058674
IFT140 ; LOC105371046
1 1.000 0.160 16 1587997 missense variant G/A snv 4.8E-03 1.9E-02 0.700 0