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: rs104894914
rs104894914
OPN1MW
4 0.851 0.120 X 154191716 missense variant T/C snv 0.800 1.000 2 1992 2002
dbSNP: rs104894915
rs104894915
OPN1MW
1 1.000 0.120 X 154187939 missense variant C/A snv 0.800 1.000 2 1992 2002
dbSNP: rs104894916
rs104894916
OPN1MW
1 1.000 0.120 X 154195934 missense variant G/A snv 0.800 1.000 2 1992 2002
dbSNP: rs724159983
rs724159983
OPN1MW
1 1.000 0.120 X 154182566 upstream gene variant A/C snv 0.700 0
dbSNP: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.030 1.000 3 2011 2017
dbSNP: rs1042140
rs1042140
HLA-DPA1 ; HLA-DPB1
2 1.000 0.120 6 33080863 stop gained A/C;G;T snv 2.4E-05; 0.25 0.010 1.000 1 2000 2000
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: rs1768208
rs1768208
MOBP
4 0.851 0.200 3 39481512 intron variant T/C snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs200215055
rs200215055
FCGR3B
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
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