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: rs121913279
rs121913279
68 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.740 1.000 14 2005 2016
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.720 1.000 13 2007 2017
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.710 1.000 12 2005 2016
dbSNP: rs121912664
rs121912664
31 0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05 0.710 1.000 3 2013 2014
dbSNP: rs28934578
rs28934578
27 0.647 0.357 17 7675088 missense variant snp 4.0E-06 0.710 1.000 3 2006 2013
dbSNP: rs17849781
rs17849781
13 0.744 0.321 17 7673788 missense variant G/A,C,T snp 0.710 1.000 2 2015 2016
dbSNP: rs28934874
rs28934874
23 0.673 0.429 17 7675161 stop gained G/A,C,T snp 0.710 1.000 2 2015 2016
dbSNP: rs121913273
rs121913273
29 0.638 0.357 3 179218294 missense variant G/A,C snp 0.700 11 2005 2016
dbSNP: rs121913274
rs121913274
33 0.626 0.286 3 179218304 missense variant A/C,G,T snp 0.700 10 2005 2016
dbSNP: rs121913286
rs121913286
21 0.679 0.250 3 179218306 missense variant C/A,G snp 0.700 9 2005 2016
dbSNP: rs397517201
rs397517201
16 0.715 0.214 3 179218307 missense variant A/C,G,T snp 0.700 9 2005 2016
dbSNP: rs1057519699
rs1057519699
2 3 179218315 missense variant G/A snp 0.700 8 2005 2012
dbSNP: rs121913470
rs121913470
10 0.769 0.179 17 39723967 missense variant T/C,G snp 0.700 5 2008 2016
dbSNP: rs1057519724
rs1057519724
2 10 87933236 missense variant G/T snp 0.700 4 1999 2010
dbSNP: rs121909219
rs121909219
8 0.821 0.250 10 87957915 stop gained C/T snp 0.700 4 1999 2010
dbSNP: rs121913289
rs121913289
4 1.000 0.071 10 87958018 frameshift variant AA/A in-del 0.700 4 1999 2010
dbSNP: rs121913468
rs121913468
4 0.878 0.143 17 39724008 missense variant G/A,C,T snp 0.700 4 2006 2016
dbSNP: rs121913471
rs121913471
3 1.000 0.071 17 39724747 missense variant G/A,C,T snp 0.700 4 2012 2016
dbSNP: rs80359212
rs80359212
5 0.923 0.179 13 32394814 stop gained C/T snp 1.2E-05 9.6E-05 0.700 4 2013 2017
dbSNP: rs80359351
rs80359351
6 0.923 0.179 13 32337161 frameshift variant TAAAC/T in-del 0.700 4 2013 2017
dbSNP: rs1057519738
rs1057519738
7 0.821 0.143 17 39725079 missense variant G/A snp 4.0E-06 0.700 3 2006 2016
dbSNP: rs1057519827
rs1057519827
2 6 152011697 missense variant G/C snp 0.700 3 2014 2014
dbSNP: rs11540652
rs11540652
40 0.618 0.464 17 7674220 missense variant C/A,G,T snp 1.2E-05 0.700 3 1998 2016
dbSNP: rs121913348
rs121913348
8 0.801 0.214 7 140781617 missense variant C/A,G,T snp 0.700 3 2002 2015
dbSNP: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.700 3 1998 2016