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: rs267607191
rs267607191
IFT122
2 0.925 0.160 3 129481546 missense variant T/G snv 4.0E-06 0.800 1.000 5 2010 2018
dbSNP: rs267607192
rs267607192
IFT122
2 0.925 0.160 3 129476463 missense variant C/T snv 2.8E-05 0.800 1.000 5 2010 2018
dbSNP: rs267607193
rs267607193
MBD4 ; IFT122
2 0.925 0.160 3 129440351 missense variant G/C snv 0.800 1.000 5 2010 2018
dbSNP: rs1224050823
rs1224050823
IFT122
1 1.000 0.120 3 129495534 missense variant T/C snv 4.0E-06 0.700 1.000 5 2010 2018
dbSNP: rs397515568
rs397515568
IFT122
1 1.000 0.120 3 129479917 missense variant G/A snv 7.0E-06 0.700 1.000 5 2010 2018
dbSNP: rs777418707
rs777418707
IFT122
1 1.000 0.120 3 129478039 missense variant G/C snv 8.0E-06 0.700 1.000 5 2010 2018
dbSNP: rs1559869525
rs1559869525
IFT122
1 1.000 0.120 3 129461305 splice donor variant G/A snv 0.700 1.000 3 2010 2016
dbSNP: rs138329739
rs138329739
IFT122
1 1.000 0.120 3 129466891 stop gained C/T snv 5.2E-05 9.1E-05 0.700 0
dbSNP: rs376595844
rs376595844
IFT122
2 0.925 0.160 3 129461309 splice region variant G/A;C;T snv 2.4E-05; 8.0E-06 0.700 0
dbSNP: rs786205566
rs786205566
IFT122
1 1.000 0.120 3 129483546 missense variant G/T snv 0.700 0
dbSNP: rs183758503
rs183758503
SPAG17
5 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs200140363
rs200140363
WDR35
5 0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2018 2018