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: rs63749877
rs63749877
GRN
3 0.882 0.120 17 44351139 frameshift variant CACT/- delins 0.700 0
dbSNP: rs63751085
rs63751085
GRN
2 0.925 0.120 17 44350767 frameshift variant CA/- del 0.700 0
dbSNP: rs1064725
rs1064725
1 1.000 0.120 19 44919304 3 prime UTR variant T/G snv 3.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs157590
rs157590
3 0.882 0.160 19 44895459 intron variant A/C snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2012 2012
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2012 2012
dbSNP: rs63750301
rs63750301
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs63750512
rs63750512
6 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs764232836
rs764232836
GRN
1 1.000 0.120 17 44349713 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019