Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs768849283
PRF1
0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 7
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs587777641
GPIHBP1
0.925 0.040 8 143215294 missense variant A/C snv 3
rs587777642
GPIHBP1
0.925 0.040 8 143215376 frameshift variant ACCCTGGCAAAGCTCCC/- delins 3
rs1568731279
HNF4A
0.925 0.160 20 44414506 splice acceptor variant G/A snv 3
rs201079485
ZPR1 ; APOA5
0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06 2