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: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2008 2008
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs4779584
rs4779584 		16 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs4813802
rs4813802 		11 0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs4925386
rs4925386
LAMA5
14 0.776 0.080 20 62345988 intron variant T/C snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs6691170
rs6691170 		12 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.010 1.000 1 2012 2012