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: rs1557083958
rs1557083958
WDR45 ; PRAF2
1 1.000 0.080 X 49075363 splice donor variant C/G;T snv 0.700 1.000 5 2012 2017
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
10 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 1.000 5 2012 2019
dbSNP: rs1557084491
rs1557084491
WDR45
1 1.000 0.080 X 49077749 splice acceptor variant T/C snv 0.700 1.000 3 2012 2015
dbSNP: rs797046102
rs797046102
WDR45 ; PRAF2
1 1.000 0.080 X 49075865 splice donor variant C/A;T snv 0.700 1.000 3 2012 2015
dbSNP: rs864309661
rs864309661
WDR45
4 1.000 0.080 X 49077715 inframe deletion CCA/- delins 0.700 1.000 3 2012 2013
dbSNP: rs1569523502
rs1569523502
WDR45
1 1.000 0.080 X 49076450 inframe deletion TCAAAC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs782557596
rs782557596
WDR45 ; PRAF2
1 1.000 0.080 X 49075239 stop gained G/A;C snv 2.7E-05 1.9E-05 0.700 1.000 1 2019 2019
dbSNP: rs797046101
rs797046101
WDR45
5 0.851 0.280 X 49076469 stop gained G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs886041382
rs886041382
WDR45
3 0.925 0.080 X 49078077 stop gained G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519622
rs1057519622
WDR45
2 1.000 0.080 X 49078038 splice donor variant AC/- delins 0.700 0
dbSNP: rs1557083830
rs1557083830
WDR45 ; PRAF2
1 1.000 0.080 X 49074913 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1557083878
rs1557083878
WDR45 ; PRAF2
1 1.000 0.080 X 49075157 frameshift variant -/GG delins 0.700 0
dbSNP: rs1557084113
rs1557084113
WDR45 ; PRAF2
1 1.000 0.080 X 49075863 splice region variant CAC/- delins 0.700 0
dbSNP: rs1557084239
rs1557084239
WDR45
1 1.000 0.080 X 49076457 frameshift variant -/A delins 0.700 0
dbSNP: rs1569523468
rs1569523468
WDR45 ; PRAF2
1 1.000 0.080 X 49075612 frameshift variant AG/- delins 0.700 0
dbSNP: rs1569523537
rs1569523537
WDR45
1 1.000 0.080 X 49077664 stop gained -/ACTA delins 0.700 0
dbSNP: rs1569523565
rs1569523565
WDR45
1 1.000 0.080 X 49078094 start lost A/T snv 0.700 0
dbSNP: rs387907328
rs387907328
WDR45 ; PRAF2
1 1.000 0.080 X 49074881 frameshift variant AT/- delins 0.700 0
dbSNP: rs387907330
rs387907330
WDR45 ; PRAF2
1 1.000 0.080 X 49075866 splice region variant C/G snv 0.700 0
dbSNP: rs387907331
rs387907331
WDR45
1 1.000 0.080 X 49076431 frameshift variant -/T delins 0.700 0
dbSNP: rs387907332
rs387907332
WDR45 ; PRAF2
1 1.000 0.080 X 49075636 stop gained G/A snv 0.700 0
dbSNP: rs797046100
rs797046100
WDR45 ; PRAF2
1 1.000 0.080 X 49074856 missense variant T/C snv 0.700 0
dbSNP: rs797046103
rs797046103
WDR45 ; PRAF2
1 1.000 0.080 X 49075361 splice donor variant AC/- delins 0.700 0
dbSNP: rs797046105
rs797046105
WDR45 ; PRAF2
1 1.000 0.080 X 49075142 frameshift variant -/A delins 0.700 0
dbSNP: rs869312661
rs869312661
WDR45 ; PRAF2
3 0.925 0.160 X 49075135 splice donor variant C/T snv 0.700 0