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: rs12023876
rs12023876
2 0.925 0.080 1 203124073 intron variant G/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.710 1.000 2 2007 2019
dbSNP: rs10158467
rs10158467
2 0.925 0.080 1 173162354 regulatory region variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10494132
rs10494132
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs10924993
rs10924993
2 0.925 0.080 1 236296485 intergenic variant T/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs1102705
rs1102705
3 0.925 0.080 1 172731728 intergenic variant G/A snv 0.93 0.700 1.000 1 2019 2019
dbSNP: rs12081541
rs12081541
2 0.925 0.160 1 152468890 intergenic variant T/C snv 8.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs12123821
rs12123821
4 0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12750027
rs12750027
1 1.000 0.080 1 212883085 intron variant G/A snv 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs1617333
rs1617333
2 0.925 0.080 1 167467033 intron variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs2070901
rs2070901
4 0.882 0.120 1 161215268 non coding transcript exon variant G/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs2289447
rs2289447
1 1.000 0.080 1 46652496 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4845604
rs4845604
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs67551275
rs67551275
2 0.925 0.080 1 9296617 intron variant T/C snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs7518129
rs7518129
3 0.882 0.120 1 173194429 intron variant A/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs78037977
rs78037977
2 0.925 0.120 1 172746562 upstream gene variant A/G snv 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs34290285
rs34290285
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 2 2019 2019
dbSNP: rs72823641
rs72823641
4 0.882 0.080 2 102319699 intron variant T/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs10175070
rs10175070
1 1.000 0.080 2 227805859 5 prime UTR variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10187276
rs10187276
2 0.925 0.080 2 227805721 upstream gene variant T/C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs10208293
rs10208293
4 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs13416555
rs13416555
3 1.000 0.080 2 8301605 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs142320277
rs142320277
2 1.000 0.080 2 140665410 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs143326447
rs143326447
4 0.925 0.080 2 111511155 intron variant T/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs1861245
rs1861245
2 0.925 0.080 2 102350446 intron variant C/T snv 0.700 1.000 1 2019 2019