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: rs2073398
rs2073398
1 22 24603137 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2074356
rs2074356
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs2140773
rs2140773
1 2 232648465 intron variant C/A;G snv 0.61 0.800 1.000 1 2011 2011
dbSNP: rs2330795
rs2330795
1 22 24600615 intron variant G/A snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs2393791
rs2393791
8 0.925 0.160 12 120986153 intron variant C/T snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs2739330
rs2739330
1 22 23953099 intron variant T/C snv 0.58 0.800 1.000 1 2011 2011
dbSNP: rs3213545
rs3213545
3 12 121033534 synonymous variant G/A snv 0.32 0.26 0.700 1.000 1 2011 2011
dbSNP: rs4503880
rs4503880
1 18 58416822 non coding transcript exon variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs4547811
rs4547811
1 4 145873469 intron variant T/C snv 0.20 0.800 1.000 1 2011 2011
dbSNP: rs516246
rs516246
10 0.925 0.160 19 48702915 intron variant C/T snv 0.38 0.45 0.800 1.000 1 2011 2011
dbSNP: rs601338
rs601338
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.700 1.000 1 2011 2011
dbSNP: rs6888304
rs6888304
1 5 31020414 intergenic variant A/G snv 0.30 0.800 1.000 1 2011 2011
dbSNP: rs7310409
rs7310409
7 0.925 0.160 12 120987058 intron variant A/C;G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs754466
rs754466
1 10 77920676 intron variant A/G;T snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs8038465
rs8038465
1 15 73685996 intron variant C/T snv 0.31 0.800 1.000 1 2011 2011
dbSNP: rs9296736
rs9296736
1 6 54059899 intron variant T/C snv 0.51 0.800 1.000 1 2011 2011
dbSNP: rs9913711
rs9913711
1 17 72102020 intron variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs340005
rs340005
3 15 60585831 intron variant G/A snv 0.67 0.800 1.000 2 2012 2019
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 1 2012 2012
dbSNP: rs2006227
rs2006227
2 22 24599789 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10460702
rs10460702
1 21 29182833 intron variant G/A snv 2.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs10913568
rs10913568
1 1 178544276 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10917347
rs10917347
1 1 23050048 intron variant T/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs10919882
rs10919882
1 1 200291886 intron variant C/A snv 7.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs11002319
rs11002319
1 10 77876403 intron variant C/T snv 0.28 0.700 1.000 1 2018 2018