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: rs587777641
rs587777641
GPIHBP1
3 0.925 0.040 8 143215294 missense variant A/C snv 0.700 1.000 4 2009 2014
dbSNP: rs587777642
rs587777642
GPIHBP1
3 0.925 0.040 8 143215376 frameshift variant ACCCTGGCAAAGCTCCC/- delins 0.700 1.000 4 2009 2014
dbSNP: rs1057516674
rs1057516674
G6PC
5 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
dbSNP: rs1568731279
rs1568731279
HNF4A
3 0.925 0.160 20 44414506 splice acceptor variant G/A snv 0.700 0
dbSNP: rs201079485
rs201079485
ZPR1 ; APOA5
4 0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06 0.700 0
dbSNP: rs768849283
rs768849283
PRF1
7 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0