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: rs199952377
rs199952377
WDR35
4 0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04 0.700 1.000 3 2013 2017
dbSNP: rs1417500285
rs1417500285
IFT140
2 0.925 0.240 16 1562007 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs267607174
rs267607174
WDR35
2 0.925 0.120 2 19945787 missense variant T/C snv 0.700 0
dbSNP: rs267607175
rs267607175
WDR35
2 0.925 0.120 2 19933469 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs267607191
rs267607191
IFT122
2 0.925 0.160 3 129481546 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs267607192
rs267607192
IFT122
2 0.925 0.160 3 129476463 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs267607193
rs267607193
MBD4 ; IFT122
2 0.925 0.160 3 129440351 missense variant G/C snv 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: rs387906980
rs387906980
WDR19
6 0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs387906981
rs387906981
WDR19
2 0.925 0.120 4 39268040 stop gained C/A;T snv 4.3E-06; 1.3E-05 0.700 0
dbSNP: rs387907107
rs387907107
IFT43
1 1.000 0.120 14 75985787 start lost A/G snv 0.700 0
dbSNP: rs397515334
rs397515334
WDR35
2 0.925 0.120 2 19931375 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs397515533
rs397515533
WDR35
2 0.925 0.120 2 19946536 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs397515534
rs397515534
WDR35 ; LOC101928222
2 0.925 0.120 2 19989284 splice acceptor variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs397515535
rs397515535
WDR35
1 1.000 0.120 2 19931354 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs397515536
rs397515536
WDR35
1 1.000 0.120 2 19975596 missense variant A/T snv 1.4E-05 0.700 0
dbSNP: rs397515567
rs397515567
IFT122
1 1.000 0.120 3 129476450 frameshift variant G/- delins 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: rs786205567
rs786205567
IFT122
5 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0
dbSNP: rs886039814
rs886039814
WDR19
13 0.807 0.200 4 39218060 missense variant C/G 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