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: rs121912461
rs121912461
ITGB4
1 1.000 0.080 17 75727853 missense variant T/C snv 0.810 1.000 7 1998 2001
dbSNP: rs121912463
rs121912463
ITGB4
1 1.000 0.080 17 75736077 missense variant T/C snv 8.0E-06 0.800 1.000 7 1998 2001
dbSNP: rs121912465
rs121912465
ITGB4
1 1.000 0.080 17 75727227 missense variant T/C snv 0.800 1.000 7 1998 2001
dbSNP: rs121912467
rs121912467
GALK1 ; ITGB4
1 1.000 0.080 17 75752221 missense variant C/A;T snv 4.0E-06 0.800 1.000 7 1998 2001
dbSNP: rs121912468
rs121912468
ITGB4
1 1.000 0.080 17 75750992 missense variant G/A;T snv 0.800 1.000 7 1998 2001
dbSNP: rs80338755
rs80338755
ITGB4
2 0.925 0.080 17 75727423 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 7 1998 2001
dbSNP: rs121912462
rs121912462
ITGB4
1 1.000 0.080 17 75736053 stop gained C/A;T snv 4.0E-06 0.710 1.000 1 1998 1998
dbSNP: rs1304888529
rs1304888529
ITGB4
1 1.000 0.080 17 75730476 missense variant T/A snv 4.0E-06 7.0E-06 0.700 1.000 7 1998 2001
dbSNP: rs1422797135
rs1422797135
ITGB4
1 1.000 0.080 17 75730349 missense variant C/T snv 0.700 1.000 7 1998 2001
dbSNP: rs201494421
rs201494421
ITGB4
1 1.000 0.080 17 75730256 missense variant C/G;T snv 8.1E-06 0.700 1.000 7 1998 2001
dbSNP: rs762236241
rs762236241
GALK1 ; ITGB4
3 0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05 0.700 1.000 2 1999 2002
dbSNP: rs121912464
rs121912464
GALK1 ; ITGB4
1 1.000 0.080 17 75755785 stop gained G/A snv 0.700 0
dbSNP: rs147222357
rs147222357
ITGB4
1 1.000 0.080 17 75751112 splice donor variant G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs1476568580
rs1476568580
ITGB4
1 1.000 0.080 17 75730320 missense variant G/A snv 4.0E-06 3.5E-05 0.700 0
dbSNP: rs1559159868
rs1559159868
ITGA6
1 1.000 0.080 2 172501823 frameshift variant A/- delins 0.700 0
dbSNP: rs772142634
rs772142634
ITGB4
1 1.000 0.080 17 75743736 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs794726676
rs794726676
GALK1 ; ITGB4
1 1.000 0.080 17 75755759 frameshift variant G/- delins 0.700 0