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: rs768324201
rs768324201
PHIP
1 1.000 6 79060680 missense variant G/A;T snv 0.800 1.000 3 2012 2018
dbSNP: rs878854420
rs878854420
PHIP
1 1.000 6 79077904 missense variant A/G snv 0.800 1.000 3 2012 2018
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1554196907
rs1554196907
PHIP ; IRAK1BP1
1 1.000 6 78961775 stop gained G/A snv 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1554212744
rs1554212744
PHIP
1 1.000 6 79060709 frameshift variant AA/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1562128924
rs1562128924
PHIP ; IRAK1BP1
1 1.000 6 78963185 stop gained A/C snv 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1562171209
rs1562171209
PHIP
9 0.851 0.160 6 79003821 missense variant T/C snv 0.700 0
dbSNP: rs1562189451
rs1562189451
PHIP
1 1.000 6 79026060 stop gained A/C snv 0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs755604487
rs755604487
PHIP
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
dbSNP: rs878854421
rs878854421
PHIP
1 1.000 6 79025986 frameshift variant A/- delins 0.700 0