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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.850 20 2003 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2005 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.050 1.000 5 2009 2018
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1922242
rs1922242
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2004 2004
dbSNP: rs2235035
rs2235035
2 0.925 0.040 7 87549770 intron variant G/A snv 0.29 0.010 1.000 1 2004 2004
dbSNP: rs2235046
rs2235046
2 0.925 0.040 7 87544750 intron variant T/A;C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs3789243
rs3789243
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 1.000 1 2007 2007