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: rs886037965
rs886037965
NPRL2 ; CYB561D2
1 1.000 3 50349690 missense variant A/G snv 0.800 1.000 2 2016 2016
dbSNP: rs149128231
rs149128231
NPRL2 ; CYB561D2
1 1.000 3 50348728 missense variant C/G snv 8.0E-05 1.3E-04 0.700 1.000 2 2016 2016
dbSNP: rs745518585
rs745518585
NPRL2 ; CYB561D2
1 1.000 3 50348775 missense variant G/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs771373457
rs771373457
NPR2 ; SPAG8
1 1.000 9 35808833 missense variant G/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs886037963
rs886037963
NPRL2 ; CYB561D2
1 1.000 3 50350001 stop gained G/A snv 0.700 0
dbSNP: rs886037964
rs886037964
NPRL2
1 1.000 3 50348173 stop gained G/A snv 0.700 0
dbSNP: rs886037966
rs886037966
NPRL2 ; CYB561D2
1 1.000 3 50350584 frameshift variant GA/- del 0.700 0