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: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs104894118
rs104894118
NR5A1
4 0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs104894897
rs104894897
NR0B1
4 0.882 0.160 X 30304676 missense variant A/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs121918654
rs121918654
NR5A1
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2003 2003
dbSNP: rs121918655
rs121918655
NR5A1
5 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1284060395
rs1284060395
CYP11A1
3 0.925 0.160 15 74339666 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1454328072
rs1454328072
CYP11A1
3 0.925 0.160 15 74339260 stop gained G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs6161
rs6161
CYP11A1
5 0.851 0.080 15 74343027 missense variant C/T snv 2.5E-03 2.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs775130992
rs775130992
STAR
3 1.000 0.040 8 38146310 missense variant G/T snv 4.0E-06 0.010 1.000 1 2010 2010