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: rs637868
rs637868
3 1.000 0.120 1 119714487 splice region variant T/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs6550253
rs6550253
3 1.000 0.120 3 34149739 intron variant G/A snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs6684897
rs6684897
3 1.000 0.120 1 238128048 intergenic variant C/G snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs72772090
rs72772090
3 1.000 0.120 5 96700607 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs738408
rs738408
10 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 0.700 1.000 1 2017 2017
dbSNP: rs74709575
rs74709575
3 1.000 0.120 13 38041119 intron variant A/C snv 3.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 3 2011 2018
dbSNP: rs10001545
rs10001545
3 4 87254878 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10787429
rs10787429
2 10 112189906 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11124554
rs11124554
2 2 36922355 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11878604
rs11878604
5 19 40827379 intron variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs12500824
rs12500824
3 1.000 0.040 4 76495474 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13247499
rs13247499
2 7 28139639 intron variant C/A snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs13395911
rs13395911
3 2 232655544 intron variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs144983009
rs144983009
2 5 56792072 intergenic variant C/T snv 5.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1658972
rs1658972
2 9 6665010 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174551
rs174551
6 11 61806212 5 prime UTR variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs185355701
rs185355701
2 6 33893066 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2109505
rs2109505
6 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.700 1.000 1 2018 2018
dbSNP: rs2241339
rs2241339
3 2 169013785 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs45587331
rs45587331
2 10 96700824 non coding transcript exon variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs4835265
rs4835265
6 4 145900258 intron variant C/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs4979372
rs4979372
2 9 114377802 intron variant T/C;G snv 0.700 1.000 1 2018 2018