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: rs1032242817
rs1032242817
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1060503383
rs1060503383
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs121918467
rs121918467
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs121918494
rs121918494
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1223073957
rs1223073957
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs138659167
rs138659167
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs1557036768
rs1557036768
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs180177039
rs180177039
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
dbSNP: rs397517077
rs397517077
CBL
10 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
dbSNP: rs587784177
rs587784177
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs727503109
rs727503109
17 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
dbSNP: rs776291104
rs776291104
12 0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 0.700 0
dbSNP: rs779027563
rs779027563
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs796052571
rs796052571
6 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0
dbSNP: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs886040971
rs886040971
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0