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: rs28933368
rs28933368
5 0.851 0.080 17 39725721 missense variant G/A snv 0.800 1.000 1 2004 2004
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.700 1.000 3 2012 2013
dbSNP: rs1553260624
rs1553260624
14 0.763 0.080 1 226064454 missense variant G/A snv 0.700 1.000 3 2012 2013
dbSNP: rs1057519906
rs1057519906
8 0.882 0.120 15 90088607 missense variant T/A;C snv 0.700 1.000 2 2009 2015
dbSNP: rs121913503
rs121913503
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.700 1.000 2 2009 2015
dbSNP: rs1057519904
rs1057519904
17 0.742 0.080 6 27872233 missense variant T/A snv 0.700 1.000 1 2012 2012
dbSNP: rs776893978
rs776893978
1 22 20997253 missense variant C/T snv 4.4E-05 9.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs869320686
rs869320686
5 0.882 22 20990476 missense variant G/A snv 0.700 0