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: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
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: rs121909628
rs121909628
FGFR1
3 0.925 0.160 8 38414892 stop gained G/A;C snv 0.700 0
dbSNP: rs121909636
rs121909636
FGFR1
7 0.827 0.240 8 38414569 stop gained G/A snv 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs138952094
rs138952094
SEMA3A
1 7 83961537 missense variant G/A snv 1.2E-03 7.6E-04 0.700 0
dbSNP: rs143862988
rs143862988
TAC3
1 12 57012866 missense variant T/C;G snv 1.6E-04; 8.0E-06 0.700 0
dbSNP: rs184758350
rs184758350
IL17RD
3 0.925 3 57110230 missense variant T/G snv 8.9E-04 6.6E-04 0.700 0
dbSNP: rs200088377
rs200088377
IL17RD
1 3 57106133 missense variant G/A snv 1.6E-04 1.3E-04 0.700 0
dbSNP: rs201195175
rs201195175
TACR3
1 4 103719165 missense variant C/A;G snv 4.0E-06 0.700 0
dbSNP: rs572115942
rs572115942
PHKG2
7 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs727505366
rs727505366
IL17RD
1 3 57106004 stop gained C/T snv 0.700 0
dbSNP: rs727505367
rs727505367
GNRHR ; UBA6-AS1
2 1.000 0.040 4 67753986 missense variant A/C snv 1.4E-05 0.700 0
dbSNP: rs727505368
rs727505368 		1 12 37253847 intergenic variant G/C;T snv 0.700 0
dbSNP: rs727505369
rs727505369
FGFR1
3 0.925 0.160 8 38424624 missense variant T/C snv 0.700 0
dbSNP: rs727505370
rs727505370
FGFR1
2 1.000 0.040 8 38414840 missense variant A/G snv 0.700 0
dbSNP: rs727505371
rs727505371
FGFR1
2 1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06 0.700 0
dbSNP: rs727505372
rs727505372
TAC3
3 0.925 0.040 12 57013359 missense variant G/T snv 0.700 0
dbSNP: rs727505373
rs727505373
FGFR1
3 0.925 0.160 8 38429744 missense variant T/C snv 0.700 0
dbSNP: rs727505374
rs727505374
ANOS1
2 1.000 0.040 X 8539744 stop gained G/A snv 0.700 0