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: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.810 1.000 12 2012 2018
dbSNP: rs142968179
rs142968179
NMNAT1
1 1.000 0.040 1 9982480 missense variant C/T snv 3.6E-05 3.5E-05 0.800 1.000 4 2012 2012
dbSNP: rs368062092
rs368062092
NMNAT1
1 1.000 0.040 1 9982571 missense variant G/A;T snv 4.4E-05 0.800 1.000 4 2012 2012
dbSNP: rs778606847
rs778606847
NMNAT1
1 1.000 0.040 1 9982577 missense variant T/C snv 1.2E-05 1.4E-05 0.800 1.000 4 2012 2012
dbSNP: rs1208495291
rs1208495291
NMNAT1
1 1.000 0.040 1 9982613 missense variant A/C snv 4.0E-06 0.700 1.000 4 2012 2012
dbSNP: rs372066126
rs372066126
NMNAT1
1 1.000 0.040 1 9975681 missense variant A/G snv 8.0E-06 2.1E-05 0.700 1.000 4 2012 2012
dbSNP: rs375110174
rs375110174
NMNAT1
1 1.000 0.040 1 9982570 missense variant C/T snv 5.2E-05 2.8E-05 0.700 1.000 4 2012 2012
dbSNP: rs757724544
rs757724544
NMNAT1
1 1.000 0.040 1 9982393 missense variant G/A snv 8.0E-06 0.700 1.000 4 2012 2012
dbSNP: rs760965874
rs760965874
NMNAT1
1 1.000 0.040 1 9975637 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 4 2012 2012
dbSNP: rs761948762
rs761948762
NMNAT1
1 1.000 0.040 1 9972132 missense variant T/A snv 4.0E-06 0.700 1.000 4 2012 2012
dbSNP: rs763325435
rs763325435
NMNAT1
2 0.925 0.040 1 9975672 missense variant C/T snv 4.0E-06; 8.4E-05 2.1E-05 0.700 1.000 4 2012 2012
dbSNP: rs1244511644
rs1244511644
NMNAT1
1 1.000 0.040 1 9982327 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs138613460
rs138613460
NMNAT1
1 1.000 0.040 1 9972110 missense variant G/A snv 1.6E-04 5.6E-04 0.700 0
dbSNP: rs371526758
rs371526758
NMNAT1
2 0.925 0.040 1 9982368 stop gained G/A snv 4.0E-05 1.2E-04 0.700 0
dbSNP: rs387907290
rs387907290
NMNAT1
1 1.000 0.040 1 9982699 stop lost T/C snv 0.700 0
dbSNP: rs387907291
rs387907291
NMNAT1
1 1.000 0.040 1 9982678 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs387907292
rs387907292
NMNAT1
1 1.000 0.040 1 9982312 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs387907293
rs387907293
NMNAT1
1 1.000 0.040 1 9982318 missense variant C/G;T snv 4.0E-06; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs387907294
rs387907294
NMNAT1
2 0.925 0.040 1 9972098 missense variant G/A snv 0.700 0
dbSNP: rs748913297
rs748913297
NMNAT1
1 1.000 0.040 1 9982403 missense variant A/C;G snv 1.2E-05 0.700 0
dbSNP: rs756903689
rs756903689
NMNAT1
1 1.000 0.040 1 9975675 missense variant G/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs771336246
rs771336246
NMNAT1
1 1.000 0.040 1 9975769 missense variant T/G snv 1.2E-05 1.1E-04 0.700 0