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: rs267607174
rs267607174
WDR35
2 0.925 0.120 2 19945787 missense variant T/C snv 0.800 1.000 1 2010 2010
dbSNP: rs267607175
rs267607175
WDR35
2 0.925 0.120 2 19933469 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs371669862
rs371669862
WDR35
2 0.925 2 19960553 splice donor variant C/A;G;T snv 8.0E-06 0.700 1.000 6 2011 2018
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: rs746128772
rs746128772
WDR35
2 0.925 2 19914054 synonymous variant C/T snv 1.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs765513105
rs765513105
WDR35
1 1.000 2 19982471 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1327489348
rs1327489348
WDR35
2 0.925 2 19962311 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs1553313859
rs1553313859
WDR35
1 1.000 2 19913645 missense variant C/A snv 0.700 0
dbSNP: rs1553317813
rs1553317813
WDR35
2 0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins 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 0.700 0
dbSNP: rs199840434
rs199840434
WDR35
2 0.925 2 19969494 stop gained G/A snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs200140363
rs200140363
WDR35
5 0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05 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: rs541910371
rs541910371
WDR35
1 1.000 2 19914229 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs767751856
rs767751856
WDR35
2 0.925 2 19953853 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0