Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs121918655
NR5A1
0.851 0.200 9 124493143 missense variant C/T snv 2
rs104894897
NR0B1
0.882 0.160 X 30304676 missense variant A/C snv 1
rs104894118
NR5A1
0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06 1
rs121918654
NR5A1
0.882 0.200 9 124503218 missense variant GC/TT mnv 1