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: rs121908595
rs121908595
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
dbSNP: rs267607048
rs267607048
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs1135402758
rs1135402758
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs786204849
rs786204849
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
dbSNP: rs869312666
rs869312666
4 0.925 0.160 1 11129789 missense variant A/C snv 0.700 0
dbSNP: rs878853161
rs878853161
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2007 2007