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: rs137852917
rs137852917
EPM2A
1 1.000 0.080 6 145627577 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.810 1.000 15 1998 2015
dbSNP: rs28940576
rs28940576
NHLRC1
2 0.925 0.080 6 18122402 missense variant G/C snv 1.1E-04 8.4E-05 0.810 1.000 13 2003 2012
dbSNP: rs104893955
rs104893955
EPM2A ; LOC100507557
1 1.000 0.080 6 145735405 missense variant A/C;T snv 0.800 1.000 14 1998 2015
dbSNP: rs137852915
rs137852915
EPM2A
1 1.000 0.080 6 145686276 missense variant G/A snv 2.4E-05 7.0E-06 0.800 1.000 14 1998 2015
dbSNP: rs769301934
rs769301934
NHLRC1
1 1.000 0.080 6 18122171 missense variant C/T snv 3.6E-05 2.8E-05 0.800 1.000 11 2003 2014
dbSNP: rs28940575
rs28940575
NHLRC1
2 0.925 0.080 6 18122531 missense variant A/T snv 8.9E-06 7.0E-06 0.800 1.000 8 2003 2011
dbSNP: rs121917876
rs121917876
NHLRC1
2 0.925 0.080 6 18122014 missense variant A/T snv 0.800 1.000 6 2003 2011
dbSNP: rs104893950
rs104893950
EPM2A
2 0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05 0.720 1.000 3 2000 2014
dbSNP: rs750465793
rs750465793
NHLRC1
2 1.000 0.080 6 18122221 missense variant G/T snv 8.2E-06 1.4E-05 0.710 1.000 1 2018 2018
dbSNP: rs1034706422
rs1034706422
EPM2A ; LOC100507557
1 1.000 0.080 6 145735235 missense variant G/A;T snv 6.0E-06 0.700 1.000 14 1998 2015
dbSNP: rs1362231306
rs1362231306
EPM2A ; LOC100507557
1 1.000 0.080 6 145735247 missense variant G/A;C snv 6.2E-06 0.700 1.000 14 1998 2015
dbSNP: rs137852916
rs137852916
EPM2A
1 1.000 0.080 6 145635451 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 14 1998 2015
dbSNP: rs375544596
rs375544596
EPM2A
1 1.000 0.080 6 145635382 missense variant G/A snv 0.700 1.000 14 1998 2015
dbSNP: rs137852859
rs137852859
NHLRC1
2 0.925 0.080 6 18121684 missense variant T/G snv 0.700 1.000 6 2003 2011
dbSNP: rs587776542
rs587776542
NHLRC1
2 0.925 0.080 6 18122138 frameshift variant CT/- del 4.9E-05 0.700 1.000 6 2003 2010
dbSNP: rs879745047
rs879745047
NHLRC1
1 1.000 0.080 6 18121825 missense variant A/G snv 4.0E-06 1.4E-05 0.700 1.000 6 2003 2011
dbSNP: rs1193718748
rs1193718748
NHLRC1
1 1.000 0.080 6 18122470 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs587776553
rs587776553
EPM2A
1 1.000 0.080 6 145686262 stop gained -/T delins 0.700 0
dbSNP: rs587776554
rs587776554
EPM2A
1 1.000 0.080 6 145627458 frameshift variant -/A delins 0.700 0
dbSNP: rs757759398
rs757759398
NHLRC1
1 1.000 0.080 6 18122509 missense variant A/C;G snv 4.5E-06; 4.5E-06 0.700 0
dbSNP: rs757858146
rs757858146
NHLRC1
1 1.000 0.080 6 18121702 missense variant T/G snv 0.700 0
dbSNP: rs779507031
rs779507031
NHLRC1
1 1.000 0.080 6 18122408 stop gained C/A;G;T snv 1.0E-05 0.700 0
dbSNP: rs796052427
rs796052427
EPM2A
1 1.000 0.080 6 145627534 missense variant T/A snv 0.700 0
dbSNP: rs796052428
rs796052428
EPM2A
1 1.000 0.080 6 145627510 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs950907157
rs950907157
NHLRC1
1 1.000 0.080 6 18122230 missense variant A/G snv 7.0E-06 0.700 0