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: rs104894897
rs104894897
NR0B1
4 0.882 0.160 X 30304676 missense variant A/C snv 0.810 1.000 16 1994 2005
dbSNP: rs28935481
rs28935481
NR0B1
3 0.882 0.160 X 30304673 missense variant T/A;C snv 5.4E-06 0.810 1.000 16 1994 2005
dbSNP: rs104894888
rs104894888
NR0B1
1 1.000 0.040 X 30308564 missense variant C/G;T snv 5.9E-06 0.800 1.000 16 1994 2005
dbSNP: rs104894896
rs104894896
NR0B1
1 1.000 0.040 X 30308218 missense variant C/A snv 0.800 1.000 16 1994 2005
dbSNP: rs104894899
rs104894899
NR0B1
1 1.000 0.040 X 30308222 missense variant A/G;T snv 0.800 1.000 16 1994 2005
dbSNP: rs104894900
rs104894900
NR0B1
1 1.000 0.040 X 30308226 missense variant A/C snv 0.800 1.000 16 1994 2005
dbSNP: rs104894907
rs104894907
NR0B1
1 1.000 0.040 X 30308474 missense variant A/G snv 0.800 1.000 16 1994 2005
dbSNP: rs28935482
rs28935482
NR0B1
1 1.000 0.040 X 30308491 missense variant C/G snv 0.800 1.000 16 1994 2005
dbSNP: rs387907373
rs387907373
NR0B1
2 0.925 0.080 X 30304718 missense variant C/A snv 0.710 1.000 1 2012 2012
dbSNP: rs104894886
rs104894886
NR0B1
1 1.000 0.040 X 30308257 stop gained C/T snv 0.700 0
dbSNP: rs104894887
rs104894887
NR0B1
1 1.000 0.040 X 30308576 stop gained A/T snv 0.700 0
dbSNP: rs104894889
rs104894889
NR0B1
1 1.000 0.040 X 30308660 stop gained C/T snv 0.700 0
dbSNP: rs104894890
rs104894890
NR0B1
1 1.000 0.040 X 30308517 stop gained G/A snv 0.700 0
dbSNP: rs104894891
rs104894891
NR0B1
1 1.000 0.040 X 30308851 stop gained C/A;T snv 6.0E-06 0.700 0
dbSNP: rs104894892
rs104894892
NR0B1
1 1.000 0.040 X 30309091 stop gained G/T snv 0.700 0
dbSNP: rs104894894
rs104894894
NR0B1
1 1.000 0.040 X 30304809 stop gained G/A snv 0.700 0
dbSNP: rs104894895
rs104894895
NR0B1
1 1.000 0.040 X 30308551 stop gained G/C snv 0.700 0
dbSNP: rs104894898
rs104894898
NR0B1
1 1.000 0.040 X 30308773 stop gained G/A;T snv 0.700 0
dbSNP: rs104894906
rs104894906
NR0B1
1 1.000 0.040 X 30304795 stop gained G/T snv 0.700 0
dbSNP: rs104894908
rs104894908
NR0B1
1 1.000 0.040 X 30309255 stop gained G/A;C snv 0.700 0
dbSNP: rs1060499835
rs1060499835
NR0B1
1 1.000 0.040 X 30308516 missense variant T/G snv 0.700 0
dbSNP: rs1131691564
rs1131691564
NR0B1
2 0.925 0.160 X 30308656 stop gained C/T snv 0.700 0
dbSNP: rs1311271225
rs1311271225
NR0B1
1 1.000 0.040 X 30308599 stop gained G/A;T snv 5.9E-06 0.700 0
dbSNP: rs1324519932
rs1324519932
NR0B1
2 0.925 0.160 X 30308445 stop gained C/A;G snv 1.3E-05 9.5E-06 0.700 0
dbSNP: rs132630327
rs132630327
NR0B1
1 1.000 0.040 X 30309049 stop gained C/G;T snv 2.8E-05 4.8E-05 0.700 0