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: rs1333040
rs1333040
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.840 1.000 6 2008 2015
dbSNP: rs9298506
rs9298506
RP1
1 1.000 0.080 8 54524964 intron variant A/G snv 0.19 0.830 1.000 5 2008 2019
dbSNP: rs10958409
rs10958409
2 1.000 0.080 8 54414531 intergenic variant G/A snv 0.18 0.820 1.000 4 2008 2018
dbSNP: rs700651
rs700651
2 1.000 0.080 2 197766990 intron variant G/A snv 0.73 0.820 1.000 3 2008 2019
dbSNP: rs10757272
rs10757272
6 0.851 0.160 9 22088261 intron variant C/T snv 0.41 0.820 1.000 2 2012 2019
dbSNP: rs6475606
rs6475606
5 0.882 0.080 9 22081851 intron variant C/T snv 0.62 0.810 1.000 1 2012 2012
dbSNP: rs6842241
rs6842241
3 0.925 0.080 4 147479667 upstream gene variant C/A snv 0.22 0.810 1.000 1 2012 2012
dbSNP: rs11661542
rs11661542
1 1.000 0.080 18 22643732 upstream gene variant C/A snv 0.38 0.800 1.000 1 2010 2010
dbSNP: rs12413409
rs12413409
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.800 1.000 1 2010 2010
dbSNP: rs1504749
rs1504749
1 1.000 0.080 8 54398151 downstream gene variant A/C snv 0.30 0.800 1.000 1 2010 2010
dbSNP: rs9315204
rs9315204
1 1.000 0.080 13 33119700 intron variant C/T snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs10230207
rs10230207
1 1.000 0.080 7 19571684 intron variant G/C;T snv 0.720 1.000 3 2014 2019
dbSNP: rs10733376
rs10733376
3 1.000 0.080 9 22114470 intron variant G/C snv 0.64 0.710 1.000 1 2014 2014
dbSNP: rs371331393
rs371331393
1 1.000 0.080 11 128969377 stop gained G/A snv 2.8E-05 0.710 1.000 1 2019 2019
dbSNP: rs9864101
rs9864101
1 1.000 0.080 3 13148884 intron variant C/T snv 0.58 0.710 1.000 1 2010 2010
dbSNP: rs1052270
rs1052270
1 1.000 0.080 9 97513142 non coding transcript exon variant C/T snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs111610752
rs111610752
1 1.000 0.080 21 36778953 intron variant A/C;T snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs112859779
rs112859779
1 1.000 0.080 8 66948134 missense variant C/A;G;T snv 7.6E-06; 1.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs114375292
rs114375292
1 1.000 0.080 13 53839718 intron variant T/C snv 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs116130729
rs116130729
1 1.000 0.080 4 16011163 intron variant C/T snv 1.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs11646803
rs11646803
1 1.000 0.080 16 14369502 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs11662668
rs11662668
1 1.000 0.080 18 22599418 intergenic variant G/A;T snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs116969723
rs116969723
1 1.000 0.080 21 44456833 synonymous variant G/A snv 1.5E-02 6.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs117398778
rs117398778
1 1.000 0.080 22 32213191 intron variant T/C snv 1.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs117537300
rs117537300
1 1.000 0.080 8 10886429 intergenic variant G/A snv 3.8E-02 0.700 1.000 1 2018 2018