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: rs12185268
rs12185268
SPPL2C ; MAPT-AS1
5 0.851 0.160 17 45846317 missense variant A/G snv 0.15 0.14 0.700 1.000 1 2015 2015
dbSNP: rs1768208
rs1768208
MOBP
4 0.851 0.200 3 39481512 intron variant T/C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs393152
rs393152
LINC02210 ; LINC02210-CRHR1
7 0.851 0.160 17 45641777 non coding transcript exon variant A/G snv 0.18 0.29 0.700 1.000 1 2015 2015
dbSNP: rs643472
rs643472 		2 0.925 0.080 8 29296260 intergenic variant C/T snv 0.73 0.700 1.000 1 2015 2015
dbSNP: rs963731
rs963731
SOS1
1 1.000 0.040 2 38989732 intron variant T/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs143624519
rs143624519
MAPT
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: rs200769426
rs200769426
LRRK2
1 1.000 0.040 12 40321138 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs33939927
rs33939927
LRRK2
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 1999 1999
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs76980269
rs76980269
NOS1
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs777148159
rs777148159
MAPT
1 1.000 0.040 17 46024073 missense variant A/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs9468
rs9468
MAPT
6 0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14 0.010 1.000 1 2012 2012