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: rs79184941
rs79184941
29 0.638 0.321 10 121520163 missense variant G/A,C snp 5.6E-05; 4.0E-06 3.2E-05 0.710 1.000 7 1995 2011
dbSNP: rs121913478
rs121913478
10 0.756 0.321 10 121515280 missense variant T/C snp 0.700 4 1996 2007
dbSNP: rs36053993
rs36053993
20 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.700 4 2002 2011
dbSNP: rs587776667
rs587776667
3 0.923 0.107 10 87931090 splice donor variant G/A,C,T snp 0.700 4 1995 1999
dbSNP: rs34612342
rs34612342
20 0.692 0.179 1 45332803 missense variant T/C snp 1.5E-03 1.6E-03 0.700 3 2002 2008
dbSNP: rs11263763
rs11263763
4 0.878 0.179 17 37743574 intron variant A/G snp 0.59 0.700 1 2017 2017
dbSNP: rs11651052
rs11651052
6 0.878 0.179 17 37742390 intron variant G/A snp 0.53 0.700 1 2017 2017
dbSNP: rs11841589
rs11841589
1 1.000 0.071 13 73240754 intergenic variant G/T snp 0.28 0.700 1 2017 2017
dbSNP: rs13328298
rs13328298
1 1.000 0.071 6 125695434 intron variant G/A,C snp 0.47 0.700 1 2017 2017
dbSNP: rs17232730
rs17232730
1 1.000 0.071 8 128525500 G/C snp 9.2E-02 0.700 1 2017 2017
dbSNP: rs1740828
rs1740828
1 1.000 0.071 6 21648854 G/A snp 0.54 0.700 1 2017 2017
dbSNP: rs2414098
rs2414098
2 1.000 0.071 15 51245609 intron variant T/C snp 0.66 0.700 1 2017 2017
dbSNP: rs2498796
rs2498796
1 1.000 0.071 14 104776883 non coding transcript exon variant G/A snp 0.34 0.700 1 2017 2017
dbSNP: rs2797160
rs2797160
1 1.000 0.071 6 125688970 intron variant A/G snp 0.47 0.700 1 2017 2017
dbSNP: rs4733613
rs4733613
1 1.000 0.071 8 128587032 intergenic variant C/G snp 0.86 0.700 1 2017 2017
dbSNP: rs786201042
rs786201042
6 0.846 0.214 2 47783243 stop gained C/G,T snp 2.5E-05 3.2E-05 0.700 1 2015 2015
dbSNP: rs937213
rs937213
1 1.000 0.071 15 40029923 intron variant T/C snp 0.31 0.700 1 2017 2017
dbSNP: rs9600103
rs9600103
1 1.000 0.071 13 73237742 intergenic variant A/T snp 0.30 0.700 1 2017 2017
dbSNP: rs104894365
rs104894365
4 0.846 0.214 12 25245345 missense variant C/T snp 0.700 0
dbSNP: rs121913530
rs121913530
39 0.615 0.321 12 25245351 missense variant C/A,G,T snp 0.700 0
dbSNP: rs2020912
rs2020912
4 0.846 0.179 2 47800616 missense variant T/C,G snp 5.1E-03 3.5E-03 0.700 0
dbSNP: rs587776701
rs587776701
2 0.923 0.071 5 80675103 frameshift variant AA/A in-del 0.700 0
dbSNP: rs63749889
rs63749889
3 0.878 0.107 2 47800685 missense variant G/A snp 2.4E-05 3.2E-05 0.700 0
dbSNP: rs63750664
rs63750664
4 0.846 0.179 2 47783292 missense variant C/A,T snp 4.1E-06; 9.4E-05 1.3E-04 0.700 0
dbSNP: rs63750741
rs63750741
7 0.821 0.179 2 47799329 missense variant T/C snp 1.2E-05 0.700 0