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: rs2241880
rs2241880
24 0.662 0.393 2 233274722 missense variant A/G snp 0.45 0.43 0.020 1.000 2 2008 2009
dbSNP: rs13361189
rs13361189
6 0.846 0.071 5 150843825 intergenic variant T/C snp 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2066845
rs2066845
28 0.662 0.429 16 50722629 missense variant G/C,T snp 1.1E-02; 2.2E-04 7.8E-03; 3.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs2066847
rs2066847
12 0.744 0.250 16 50729867 frameshift variant G/GC in-del 0.010 1.000 1 2015 2015
dbSNP: rs5743618
rs5743618
14 0.724 0.321 4 38797027 missense variant C/A snp 0.53 0.47 0.010 < 0.001 1 2006 2006
dbSNP: rs6559629
rs6559629
2 1.000 0.036 9 81592445 intron variant G/A snp 0.53 0.010 1.000 1 2011 2011