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: rs80358223
rs80358223
TACSTD2
2 0.925 0.160 1 58576805 stop gained G/A snv 7.0E-06 0.750 1.000 5 1999 2012
dbSNP: rs80358228
rs80358228
TACSTD2
1 1.000 0.120 1 58576600 missense variant A/G snv 0.710 1.000 1 2005 2005
dbSNP: rs80358224
rs80358224
TACSTD2
1 1.000 0.120 1 58576538 stop gained G/A snv 0.700 0
dbSNP: rs80358225
rs80358225
TACSTD2
2 1.000 0.120 1 58576648 stop gained G/T snv 0.700 0
dbSNP: rs80358226
rs80358226
TACSTD2
1 1.000 0.120 1 58577155 start lost A/C;G;T snv 0.700 0
dbSNP: rs80358227
rs80358227
TACSTD2
1 1.000 0.120 1 58576802 missense variant A/T snv 0.700 0
dbSNP: rs267607109
rs267607109
TGFBI
5 0.827 0.160 5 136056754 missense variant C/A snv 0.040 0.750 4 2004 2007
dbSNP: rs121909210
rs121909210
TGFBI
15 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs121909212
rs121909212
TGFBI
6 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs121909715
rs121909715
GSN
8 0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1282483375
rs1282483375
TACSTD2
1 1.000 0.120 1 58576757 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs190800473
rs190800473
TACSTD2
1 1.000 0.120 1 58576606 missense variant T/C snv 4.2E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs267607110
rs267607110
TGFBI
4 0.851 0.160 5 136056769 missense variant C/A snv 0.010 < 0.001 1 2004 2004
dbSNP: rs756465037
rs756465037
LTF
6 0.807 0.200 3 46439392 missense variant C/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005