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: rs28942090
rs28942090
ALG12
1 1.000 0.080 22 49910479 missense variant A/C snv 0.810 1.000 5 2002 2007
dbSNP: rs121907931
rs121907931
ALG12
1 1.000 0.080 22 49913480 missense variant G/A snv 4.0E-06 0.800 1.000 5 2002 2007
dbSNP: rs121907932
rs121907932
ALG12
1 1.000 0.080 22 49910466 missense variant C/T snv 1.2E-04 1.5E-04 0.800 1.000 5 2002 2007
dbSNP: rs121907933
rs121907933
ALG12
1 1.000 0.080 22 49910602 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.800 1.000 5 2002 2007
dbSNP: rs121907934
rs121907934
ALG12
1 1.000 0.080 22 49910085 missense variant A/G snv 0.800 1.000 5 2002 2007
dbSNP: rs121907935
rs121907935
ALG12
1 1.000 0.080 22 49904063 stop gained G/A;C snv 6.8E-05 0.700 0
dbSNP: rs1555930118
rs1555930118
ALG12
1 1.000 0.080 22 49910536 missense variant C/T snv 0.700 0
dbSNP: rs1569174722
rs1569174722
ALG12
1 1.000 0.080 22 49907782 frameshift variant GT/- del 0.700 0
dbSNP: rs759244819
rs759244819
ALG12
3 0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 0.700 0
dbSNP: rs761221480
rs761221480
ALG12
3 0.882 0.120 22 49913649 frameshift variant C/- del 1.6E-05 7.0E-06 0.700 0