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: rs10029654
rs10029654
EGF
1 1.000 0.040 4 109940771 intron variant G/A snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs10046277
rs10046277
1 1.000 0.040 6 32887304 regulatory region variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs12718939
rs12718939
1 1.000 0.040 7 55037627 intron variant A/G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs197452
rs197452
2 0.925 0.080 10 44374792 intron variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2012 2012
dbSNP: rs2303070
rs2303070
3 0.882 0.120 5 148120328 missense variant G/A;C;T snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs3917018
rs3917018
1 1.000 0.040 1 100736666 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs499384
rs499384
1 1.000 0.040 6 33614313 intergenic variant G/A snv 0.12 0.010 1.000 1 2016 2016