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: rs12546767
rs12546767
WASHC5
2 0.925 0.120 8 125070323 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs1284201310
rs1284201310
MAPT
1 1.000 0.120 17 46010334 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1291370551
rs1291370551
GRN
3 0.882 0.120 17 44349468 missense variant T/G snv 4.0E-06 0.020 1.000 2 2015 2018
dbSNP: rs1295855402
rs1295855402
MAPT
2 0.925 0.120 17 46024034 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
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: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs13302855
rs13302855 		3 0.882 0.200 9 27595997 intergenic variant C/T snv 7.5E-02 0.010 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: rs1358071
rs1358071
LINC02210-CRHR1
2 1.000 0.120 17 45725823 intron variant C/A;T snv 0.010 1.000 1 2017 2017
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: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs139108915
rs139108915
PAX5
3 0.925 0.120 9 36840599 missense variant G/A snv 1.0E-05 9.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs1399104933
rs1399104933
RRM1
2 0.925 0.120 11 4111950 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1401496725
rs1401496725
REG1A
2 0.925 0.120 2 79121657 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs140547520
rs140547520
PFN1
4 0.851 0.120 17 4945973 missense variant T/C snv 5.0E-04 5.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs1417373701
rs1417373701
SLCO6A1
2 0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs142444896
rs142444896
CHCHD2
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.040 1.000 4 2014 2018
dbSNP: rs1470543813
rs1470543813
IGFALS ; SPSB3
2 0.925 0.120 16 1792093 stop gained G/A snv 4.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs148159882
rs148159882
CCNF
2 0.925 0.120 16 2437263 missense variant G/A snv 5.2E-05 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs149119842
rs149119842
CHCHD2
3 0.882 0.120 7 56104288 missense variant T/C snv 2.4E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1566630811
rs1566630811
PSEN1
1 1.000 0.120 14 73173591 missense variant A/G snv 0.700 0
dbSNP: rs1566630884
rs1566630884
PSEN1
1 1.000 0.120 14 73173636 missense variant G/A snv 0.700 0
dbSNP: rs1566650594
rs1566650594
PSEN1
4 0.851 0.120 14 73206384 splice acceptor variant A/T snv 0.700 1.000 3 2010 2017