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: rs121909242
rs121909242
2 0.925 0.080 3 12416825 missense variant A/C snv 0.700 0
dbSNP: rs121909243
rs121909243
1 1.000 0.080 3 12416923 stop gained A/T snv 0.700 0
dbSNP: rs28936407
rs28936407
2 0.925 0.080 3 12416831 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs587776687
rs587776687
1 1.000 0.080 3 12392683 frameshift variant A/- delins 0.700 0
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.100 0.846 13 2003 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.800 10 2003 2010
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.040 1.000 4 2008 2019
dbSNP: rs9858822
rs9858822
2 0.925 0.080 3 12369739 intron variant A/C snv 0.11 0.010 1.000 1 2013 2013