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: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.700 6 2005 2009
dbSNP: rs397517201
rs397517201
16 0.715 0.214 3 179218307 missense variant A/C,G,T snp 0.700 5 2006 2013
dbSNP: rs587781321
rs587781321
5 0.846 0.250 17 61780325 stop gained G/A,T snp 1.6E-05; 2.0E-05 6.4E-05 0.700 5 2015 2016
dbSNP: rs730881649
rs730881649
5 0.846 0.250 17 61744433 frameshift variant CTT/C in-del 1.2E-05 0.700 5 2005 2017
dbSNP: rs121913272
rs121913272
11 0.756 0.321 3 179210192 missense variant T/C,G snp 0.700 4 2004 2013
dbSNP: rs587778134
rs587778134
4 0.878 0.250 17 61776458 frameshift variant C/CAA in-del 0.700 4 2015 2017
dbSNP: rs587780226
rs587780226
3 0.923 0.214 17 61799125 stop gained G/A snp 1.2E-05 0.700 4 2017 2017
dbSNP: rs587782410
rs587782410
5 0.846 0.250 17 61685976 stop gained A/C snp 1.2E-05 0.700 3 2015 2017
dbSNP: rs771028677
rs771028677
4 0.878 0.250 17 61684053 frameshift variant CTTTG/C in-del 0.700 3 2008 2017
dbSNP: rs786202610
rs786202610
4 0.878 0.250 17 61808495 frameshift variant CT/C in-del 0.700 3 2015 2017
dbSNP: rs786203717
rs786203717
4 0.878 0.250 17 61684051 frameshift variant CTCTT/C in-del 1.6E-05 3.2E-05 0.700 3 2008 2018
dbSNP: rs1057519365
rs1057519365
5 0.846 0.286 17 61780931 frameshift variant ATT/A in-del 0.700 2 2011 2017
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.700 2 2007 2011
dbSNP: rs587780228
rs587780228
4 0.878 0.250 17 61793698 stop gained C/A snp 4.0E-06 6.4E-05 0.700 2 2016 2017
dbSNP: rs587781292
rs587781292
4 0.878 0.250 17 61859868 stop gained C/A,T snp 4.0E-06 3.2E-05; 3.2E-05 0.700 2 2015 2015
dbSNP: rs113954997
rs113954997
2 0.923 0.107 11 14294844 missense variant T/A,C snp 0.700 1 1994 1994
dbSNP: rs121913274
rs121913274
33 0.626 0.286 3 179218304 missense variant A/C,G,T snp 0.700 1 2013 2013
dbSNP: rs121913403
rs121913403
15 0.707 0.250 3 41224622 missense variant C/A,G,T snp 0.700 1 1999 1999
dbSNP: rs137852691
rs137852691
3 0.878 0.107 11 132657203 missense variant G/A,C snp 8.0E-06 0.700 1 2003 2003
dbSNP: rs28933370
rs28933370
4 0.846 0.107 17 39725125 missense variant A/G snp 0.700 1 2004 2004
dbSNP: rs587780224
rs587780224
4 0.878 0.250 17 61801266 frameshift variant TTG/T in-del 4.0E-06 0.700 1 2017 2017
dbSNP: rs587780236
rs587780236
4 0.878 0.250 17 61743118 frameshift variant T/TA in-del 8.0E-06 0.700 1 2017 2017
dbSNP: rs587781985
rs587781985
4 0.878 0.250 17 61780342 frameshift variant T/TC in-del 4.0E-06 0.700 1 2017 2017
dbSNP: rs587782574
rs587782574
3 0.923 0.214 17 61743015 stop gained G/A snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs786203700
rs786203700
4 0.878 0.250 17 61857233 splice acceptor variant T/C snp 4.0E-06 0.700 1 2016 2016