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: rs121918317
rs121918317
1 1.000 0.040 9 127682489 missense variant G/A;T snv 0.800 1.000 11 2008 2017
dbSNP: rs121918318
rs121918318
1 1.000 0.040 9 127663314 missense variant G/A snv 0.800 1.000 11 2008 2017
dbSNP: rs121918319
rs121918319
1 1.000 0.040 9 127676722 missense variant T/G snv 0.800 1.000 11 2008 2017
dbSNP: rs121918320
rs121918320
1 1.000 0.040 9 127660034 missense variant T/A snv 0.800 1.000 11 2008 2017
dbSNP: rs587777310
rs587777310
2 0.925 0.040 9 127668132 missense variant G/A snv 0.800 1.000 11 2008 2017
dbSNP: rs886041246
rs886041246
2 0.925 0.040 9 127675910 missense variant G/A;T snv 0.700 1.000 6 2010 2016
dbSNP: rs796053361
rs796053361
4 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 4 2014 2016
dbSNP: rs794727792
rs794727792
8 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs796053359
rs796053359
1 1.000 0.040 9 127666205 stop gained C/G;T snv 0.700 1.000 3 2010 2015
dbSNP: rs796053368
rs796053368
2 0.925 0.040 9 127678510 missense variant C/T snv 0.700 1.000 3 2011 2015
dbSNP: rs796053373
rs796053373
1 1.000 0.040 9 127682509 missense variant C/A;T snv 0.700 1.000 3 2013 2016
dbSNP: rs121918321
rs121918321
2 0.925 0.040 9 127675855 stop gained C/T snv 0.700 1.000 2 2009 2015
dbSNP: rs796053353
rs796053353
6 0.882 0.120 9 127661192 missense variant C/T snv 0.700 1.000 2 2014 2015
dbSNP: rs796053355
rs796053355
2 0.925 0.040 9 127663343 missense variant C/T snv 0.700 1.000 2 2013 2015
dbSNP: rs886041978
rs886041978
1 1.000 0.040 9 127668188 splice donor variant G/A;C snv 0.700 1.000 2 2011 2013
dbSNP: rs1564351388
rs1564351388
4 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1057519501
rs1057519501
1 1.000 0.040 9 127672093 stop gained C/T snv 0.700 0
dbSNP: rs1316686443
rs1316686443
1 1.000 0.040 9 127666293 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1554775960
rs1554775960
1 1.000 0.040 9 127651654 splice donor variant T/C snv 0.700 0
dbSNP: rs1554776674
rs1554776674
1 1.000 0.040 9 127658373 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554776831
rs1554776831
1 1.000 0.040 9 127660037 frameshift variant -/TC delins 0.700 0
dbSNP: rs1554776853
rs1554776853
1 1.000 0.040 9 127660108 splice donor variant TG/- delins 0.700 0
dbSNP: rs1554778417
rs1554778417
2 0.925 0.040 9 127675802 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1564346538
rs1564346538
1 1.000 0.040 9 127651644 stop gained G/T snv 0.700 0
dbSNP: rs1564356269
rs1564356269
1 1.000 0.040 9 127680186 frameshift variant -/C delins 0.700 0