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: rs750610248
rs750610248
BCL11B
3 0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs1426488816
rs1426488816
PLAA
9 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1555908409
rs1555908409
RAC2
7 0.851 0.160 22 37232842 missense variant C/T snv 0.700 0
dbSNP: rs1567629968
rs1567629968
CARMIL2
3 0.882 0.160 16 67648973 missense variant C/A snv 0.700 0
dbSNP: rs199840952
rs199840952
ZAP70
7 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs587777630
rs587777630
STAT1
16 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
dbSNP: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
dbSNP: rs863225436
rs863225436
TFRC
2 0.925 0.120 3 196075339 missense variant A/G snv 0.700 0
dbSNP: rs869025224
rs869025224
ZAP70
7 0.827 0.240 2 97734709 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs1437892966
rs1437892966
DCLRE1C
1 1.000 0.120 10 14945140 missense variant T/G snv 7.0E-06 0.010 1.000 1 2013 2013