Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs771866012
CHST3
0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 8
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs1057519335
NPR2
0.925 0.040 9 35792968 missense variant T/A snv 5
rs769540174
CHST3
1.000 0.080 10 72007559 frameshift variant G/-;GG delins 4
rs1272546759
GNAS
0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 4