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: rs121434286
rs121434286
3 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.700 0
dbSNP: rs121908200
rs121908200
2 0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs104894064
rs104894064
3 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 1.000 2 2000 2004
dbSNP: rs113019349
rs113019349
2 0.925 0.120 11 6616004 splice donor variant C/G;T snv 0.700 1.000 1 1999 1999
dbSNP: rs121908209
rs121908209
2 0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs746085696
rs746085696
1 1.000 0.120 11 6619191 splice region variant C/G;T snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs587779411
rs587779411
5 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs386833695
rs386833695
2 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 6 1997 2013
dbSNP: rs386833645
rs386833645
2 0.925 0.120 1 40097236 start lost C/T snv 1.4E-05 0.700 1.000 5 1998 2007
dbSNP: rs104894060
rs104894060
3 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.700 1.000 4 2004 2014
dbSNP: rs119455954
rs119455954
2 0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 0.700 1.000 3 1998 2015
dbSNP: rs546989392
rs546989392
2 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs121908199
rs121908199
2 0.925 0.120 11 6615542 missense variant C/T snv 0.700 0
dbSNP: rs1564855725
rs1564855725
5 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
dbSNP: rs386833651
rs386833651
2 0.925 0.120 1 40089409 splice donor variant C/T snv 0.700 0
dbSNP: rs765380155
rs765380155
2 0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs786204753
rs786204753
2 0.925 0.120 11 6615217 stop gained C/T snv 0.700 0
dbSNP: rs587776892
rs587776892
2 0.925 0.120 20 63930871 inframe deletion CTC/- delins 0.700 1.000 5 2011 2013
dbSNP: rs794729218
rs794729218
1 1.000 0.120 13 76995933 frameshift variant G/- del 0.700 0
dbSNP: rs119455955
rs119455955
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.700 1.000 5 1997 2013
dbSNP: rs121908202
rs121908202
2 0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 0.700 1.000 4 1999 2013
dbSNP: rs386833980
rs386833980
2 0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 3 2009 2015
dbSNP: rs1267314028
rs1267314028
1 1.000 0.120 16 28486388 synonymous variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs386833709
rs386833709
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs63751177
rs63751177
GRN
2 1.000 0.120 17 44351438 stop gained G/A snv 0.010 1.000 1 2019 2019