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: rs2904551
rs2904551
PRODH
8 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.810 1.000 4 2002 2018
dbSNP: rs2904552
rs2904552
PRODH
3 0.925 0.120 22 18918451 missense variant C/T snv 7.2E-02 0.800 1.000 3 2002 2007
dbSNP: rs1807467
rs1807467
PRODH
1 1.000 0.080 22 18918380 missense variant C/A snv 9.4E-04 1.1E-03 0.800 0
dbSNP: rs3970559
rs3970559
PRODH
4 0.851 0.120 22 18918386 missense variant G/A snv 1.1E-02 0.800 0
dbSNP: rs137852934
rs137852934
PRODH
1 1.000 0.080 22 18922389 missense variant A/T snv 3.6E-03 0.700 1.000 3 2002 2007
dbSNP: rs193919334
rs193919334
PRODH ; DGCR6
1 1.000 0.080 22 18913492 missense variant G/A;C;T snv 1.0E-05 0.700 0
dbSNP: rs2238731
rs2238731
PRODH
3 0.882 0.120 22 18918464 missense variant C/T snv 3.8E-02 0.700 0
dbSNP: rs2870983
rs2870983
PRODH
3 0.882 0.120 22 18918329 missense variant C/T snv 4.9E-02; 4.0E-06 5.5E-02 0.700 0
dbSNP: rs2870984
rs2870984
PRODH
2 0.925 0.080 22 18918346 missense variant G/A snv 4.6E-03 3.3E-03 0.700 0
dbSNP: rs450046
rs450046
PRODH ; DGCR6
4 0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03 0.700 0
dbSNP: rs1135401891
rs1135401891
BRCA2
7 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018