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: rs80356718
rs80356718
5 0.827 0.120 1 11022209 missense variant A/G snv 7.6E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs374191107
rs374191107
FUS
1 1.000 0.120 16 31183984 missense variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1423300240
rs1423300240
FUS
1 1.000 0.120 16 31184952 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1768208
rs1768208
4 0.851 0.200 3 39481512 intron variant T/C snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs753325601
rs753325601
4 0.851 0.200 6 41161515 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2018 2018
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: rs157590
rs157590
3 0.882 0.160 19 44895459 intron variant A/C snv 0.60 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: rs8070723
rs8070723
7 0.851 0.240 17 46003698 intron variant A/G snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs387906711
rs387906711
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.010 1.000 1 2019 2019