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: rs10778213
rs10778213
1 12 103101373 intron variant T/C snv 0.57 0.800 1.000 1 2008 2008
dbSNP: rs12037222
rs12037222
1 1 39599289 regulatory region variant G/A snv 0.16 0.800 1.000 1 2011 2011
dbSNP: rs1408282
rs1408282
1 6 93142534 intergenic variant G/A snv 9.6E-02 0.800 1.000 1 2012 2012
dbSNP: rs2097677
rs2097677
1 7 22693220 intron variant G/A snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs2808634
rs2808634
1 1 159722783 intergenic variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs2847281
rs2847281
3 1.000 0.040 18 12821594 intron variant A/G snv 0.32 0.800 1.000 1 2011 2011
dbSNP: rs340029
rs340029
1 15 60602766 intron variant C/T snv 0.70 0.800 1.000 1 2011 2011
dbSNP: rs4705952
rs4705952
1 5 132503926 intron variant G/A snv 0.62 0.800 1.000 1 2011 2011
dbSNP: rs6901250
rs6901250
1 6 116792862 synonymous variant G/A snv 0.33 0.29 0.800 1.000 1 2011 2011
dbSNP: rs746961
rs746961
1 19 30608983 intron variant A/G snv 0.46 0.800 1.000 1 2007 2007
dbSNP: rs9375813
rs9375813
2 6 131436107 intergenic variant C/A snv 0.14 0.800 1.000 1 2014 2014
dbSNP: rs10036128
rs10036128
1 5 6937069 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1008924
rs1008924
1 14 51616362 intron variant G/A snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs10119
rs10119
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs10235512
rs10235512
1 7 4865424 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10255299
rs10255299
2 7 111887504 intron variant G/A snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10401969
rs10401969
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10429953
rs10429953
CR1
1 1 207615233 intron variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10435719
rs10435719
2 8 11919395 downstream gene variant C/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10437339
rs10437339
1 1 159740595 intergenic variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10437340
rs10437340
1 1 159741019 intergenic variant G/C snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs10485165
rs10485165
3 6 88403098 intron variant C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs10512597
rs10512597
4 17 74703694 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1051338
rs1051338
7 0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26 0.700 1.000 1 2018 2018
dbSNP: rs10518765
rs10518765
3 1.000 0.040 15 54388434 intron variant A/C snv 0.16 0.700 1.000 1 2007 2007