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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2017 2019
dbSNP: rs201159898
rs201159898
1 1.000 0.080 7 87549509 missense variant T/A;C snv 1.2E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs28364274
rs28364274
1 1.000 0.080 7 87504335 missense variant C/T snv 4.7E-03 4.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs45456698
rs45456698
1 1.000 0.080 7 87504335 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs749574370
rs749574370
2 0.925 0.080 7 87545934 missense variant T/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009