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: rs1042602
rs1042602
TYR ; LOC107984363
6 0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 0.700 1.000 1 2007 2007
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs12931267
rs12931267
FANCA
4 1.000 0.040 16 89752324 intron variant C/G snv 4.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs1540771
rs1540771
LOC105374875
2 1.000 0.040 6 466033 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2007 2007
dbSNP: rs2153271
rs2153271
BNC2
3 0.925 0.160 9 16864523 intron variant C/T snv 0.43 0.700 1.000 1 2010 2010
dbSNP: rs367899983
rs367899983
BNC2
2 1.000 0.120 9 16864524 intron variant GTCT/- delins 4.2E-05 0.700 1.000 1 2010 2010
dbSNP: rs619865
rs619865
EIF6 ; MMP24OS ; MMP24-AS1-EDEM2
2 1.000 0.040 20 35279894 intron variant A/G snv 0.94 0.94 0.700 1.000 1 2010 2010
dbSNP: rs1057516029
rs1057516029
TRIO
6 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0
dbSNP: rs1560419312
rs1560419312
KIT
4 1.000 0.120 4 54729344 missense variant T/G snv 0.700 0