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: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs1057516264
rs1057516264
TPP1
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
dbSNP: rs1569149539
rs1569149539
TCF20
3 0.925 0.160 22 42212712 stop gained G/C snv 0.700 0
dbSNP: rs1569151204
rs1569151204
TCF20
2 0.925 0.160 22 42213495 frameshift variant CA/- delins 0.700 0
dbSNP: rs1060505029
rs1060505029
TAF13
5 0.882 0.240 1 109066220 missense variant A/T snv 0.700 0
dbSNP: rs1060505030
rs1060505030
TAF13
4 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs886041239
rs886041239
SMC3
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
5 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
dbSNP: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
3 0.925 0.160 2 166046970 missense variant G/A;T snv 0.700 0
dbSNP: rs1239725461
rs1239725461
SCAPER
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs397507542
rs397507542
PTPN11
9 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
dbSNP: rs794729664
rs794729664
PTEN
3 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
15 0.851 0.200 6 78958551 stop gained G/A snv 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: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/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