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: rs1085307051
rs1085307051
5 0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del 0.700 0
dbSNP: rs1566630811
rs1566630811
1 1.000 0.120 14 73173591 missense variant A/G snv 0.700 0
dbSNP: rs1566630884
rs1566630884
1 1.000 0.120 14 73173636 missense variant G/A snv 0.700 0
dbSNP: rs1567885658
rs1567885658
GRN
1 1.000 0.120 17 44349518 frameshift variant -/T delins 0.700 0
dbSNP: rs1567886206
rs1567886206
GRN
1 1.000 0.120 17 44350262 frameshift variant -/A delins 0.700 0
dbSNP: rs1567886445
rs1567886445
GRN
1 1.000 0.120 17 44350501 stop gained -/TGTGAAGACAGGGTGCACTGCTGTC ins 0.700 0
dbSNP: rs1567886478
rs1567886478
GRN
1 1.000 0.120 17 44350539 frameshift variant T/- del 0.700 0
dbSNP: rs1567887015
rs1567887015
GRN
1 1.000 0.120 17 44351102 frameshift variant -/A delins 0.700 0
dbSNP: rs1567887777
rs1567887777
GRN
1 1.000 0.120 17 44351795 splice region variant G/A snv 0.700 0
dbSNP: rs1567888461
rs1567888461
GRN
1 1.000 0.120 17 44352373 stop gained C/A snv 0.700 0
dbSNP: rs1568327531
rs1568327531
1 1.000 0.120 17 46010403 splice donor variant G/A snv 0.700 0
dbSNP: rs1568339821
rs1568339821
1 1.000 0.120 17 46018672 missense variant A/G snv 0.700 0
dbSNP: rs193026789
rs193026789
GRN
1 1.000 0.120 17 44352047 stop gained C/A;T snv 2.0E-05 0.700 0
dbSNP: rs63749801
rs63749801
GRN
2 0.925 0.120 17 44350263 frameshift variant CAGT/- delins 7.0E-06 0.700 0
dbSNP: rs63749817
rs63749817
GRN
2 0.925 0.120 17 44350801 splice donor variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs63749824
rs63749824
8 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs63749836
rs63749836
5 0.827 0.160 14 73192786 missense variant G/A snv 0.700 0
dbSNP: rs63750308
rs63750308
1 1.000 0.120 17 46010415 intron variant A/G snv 0.700 0
dbSNP: rs63750590
rs63750590
10 0.790 0.120 14 73186860 missense variant A/G snv 0.700 0
dbSNP: rs63750635
rs63750635
5 0.851 0.120 17 46014286 missense variant C/T snv 0.700 0
dbSNP: rs63750912
rs63750912
1 1.000 0.120 17 46010375 synonymous variant T/C snv 0.700 0
dbSNP: rs63750972
rs63750972
1 1.000 0.120 17 46010416 intron variant C/T snv 0.700 0
dbSNP: rs63751035
rs63751035
GRN
2 0.925 0.120 17 44351081 stop gained TG/-;TGTG delins 0.700 0
dbSNP: rs63751223
rs63751223
6 0.807 0.160 14 73219161 missense variant G/C snv 0.700 0
dbSNP: rs63751394
rs63751394
1 1.000 0.120 17 46010413 intron variant T/C snv 0.700 0