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: rs10101195
rs10101195 		1 1.000 0.120 8 11765703 upstream gene variant C/A snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs1048775
rs1048775
TEPSIN ; LOC105371925
1 1.000 0.120 17 81228529 3 prime UTR variant G/C snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs1254158201
rs1254158201
SQSTM1 ; MRNIP
1 1.000 0.120 5 179836453 frameshift variant -/T delins 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1284201310
rs1284201310
MAPT
1 1.000 0.120 17 46010334 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs13072484
rs13072484 		1 1.000 0.120 3 197409951 intergenic variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs13393316
rs13393316
NDUFS1
1 1.000 0.120 2 206134615 intron variant A/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1386649838
rs1386649838
GRN
1 1.000 0.120 17 44351553 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17042852
rs17042852
LOC730100 ; LINC01867
1 1.000 0.120 2 52372929 intron variant T/C snv 3.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs2255166
rs2255166
TEPSIN ; NDUFAF8
1 1.000 0.120 17 81239762 non coding transcript exon variant T/C snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs2659030
rs2659030
CEP131
1 1.000 0.120 17 81204174 intron variant G/A;T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs2725391
rs2725391
CEP131
1 1.000 0.120 17 81218630 intron variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs36196656
rs36196656
GFRA2
1 1.000 0.120 8 21763735 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs377163259
rs377163259
RIMS2
1 1.000 0.120 8 104244975 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs6108746
rs6108746 		1 1.000 0.120 20 10922123 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs6111609
rs6111609
RRBP1
1 1.000 0.120 20 17683901 upstream gene variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs63750412
rs63750412
GRN
1 1.000 0.120 17 44352132 missense variant C/T snv 5.5E-03; 4.0E-06 5.2E-03 0.010 1.000 1 2007 2007
dbSNP: rs6809184
rs6809184
TNIK
1 1.000 0.120 3 171170409 intron variant C/T snv 6.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs6962939
rs6962939
COL28A1
1 1.000 0.120 7 7484595 intron variant T/A snv 5.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs7240419
rs7240419
ATP9B
1 1.000 0.120 18 79168989 intron variant G/A snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs746478952
rs746478952
FLNC
1 1.000 0.120 7 128842895 missense variant G/A snv 3.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs750312986
rs750312986
GRN
1 1.000 0.120 17 44351436 frameshift variant -/TG delins 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs756007506
rs756007506
TXNRD1
1 1.000 0.120 12 104327604 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs758290972
rs758290972
TYROBP
1 1.000 0.120 19 35907730 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 3.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs765930318
rs765930318
TMEM189 ; TMEM189-UBE2V1
1 1.000 0.120 20 50153633 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs775543665
rs775543665
PSEN1
1 1.000 0.120 14 73170827 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.010 1.000 1 2018 2018