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: rs121912724
rs121912724
1 1.000 0.080 11 116836361 missense variant A/C snv 0.800 1.000 4 1988 1994
dbSNP: rs121909612
rs121909612
FGA
6 0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06 0.800 1.000 1 1993 1993
dbSNP: rs121913547
rs121913547
LYZ
7 0.807 0.200 12 69350192 missense variant T/C snv 0.800 1.000 1 1993 1993
dbSNP: rs398122820
rs398122820
B2M
8 0.790 0.240 15 44715641 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs78506343
rs78506343
FGA
1 1.000 0.080 4 154585711 splice acceptor variant C/A;G;T snv 4.0E-06; 4.4E-05 0.800 1.000 1 1993 1993
dbSNP: rs28931574
rs28931574
2 0.925 0.120 11 116837053 missense variant C/G;T snv 2.8E-05 0.700 1.000 4 1988 1994
dbSNP: rs121913548
rs121913548
LYZ
1 1.000 0.080 12 69350224 missense variant G/C snv 0.700 1.000 1 1993 1993
dbSNP: rs121912726
rs121912726
1 1.000 0.080 11 116836392 missense variant A/G snv 0.700 0
dbSNP: rs121912729
rs121912729
1 1.000 0.080 11 116836019 missense variant A/G snv 0.700 0
dbSNP: rs121912730
rs121912730
1 1.000 0.080 11 116836017 missense variant C/G;T snv 8.3E-06 0.700 0
dbSNP: rs121913549
rs121913549
LYZ
3 0.882 0.200 12 69350194 missense variant T/A snv 0.700 0
dbSNP: rs387906535
rs387906535
LYZ
2 0.925 0.080 12 69350170 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs387906536
rs387906536
LYZ
6 0.851 0.200 12 69350215 missense variant T/A;C snv 0.700 0
dbSNP: rs587777761
rs587777761
FGA
1 1.000 0.080 4 154585807 frameshift variant A/- del 0.700 0
dbSNP: rs587777762
rs587777762
FGA
1 1.000 0.080 4 154585800 frameshift variant C/- del 0.700 0