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: rs3827385
rs3827385
1 1.000 22 43992937 intron variant T/C snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs4674344
rs4674344
1 1.000 2 218805152 intron variant A/T snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs4823179
rs4823179
1 1.000 22 43945313 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs6006468
rs6006468
1 1.000 22 43987552 non coding transcript exon variant G/C snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs6006469
rs6006469
1 1.000 22 43987737 non coding transcript exon variant C/G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs6006602
rs6006602
1 1.000 22 43987520 non coding transcript exon variant C/T snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs926633
rs926633
1 1.000 22 43941653 intron variant G/A snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.710 1.000 2 2013 2015
dbSNP: rs12743824
rs12743824
2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2235776
rs2235776
3 0.925 0.040 22 43982119 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs2290602
rs2290602
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs3761472
rs3761472
2 0.925 0.040 22 43972242 missense variant A/G snv 0.21 0.18 0.700 1.000 1 2013 2013
dbSNP: rs6006473
rs6006473
2 0.925 0.040 22 43997195 intron variant C/T snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs6601299
rs6601299
5 0.925 0.040 8 9327181 intron variant T/C snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs72563732
rs72563732
3 0.882 0.040 3 186854563 synonymous variant C/T snv 6.4E-05 2.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs951599607
rs951599607
4 0.925 0.040 3 12434028 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2143571
rs2143571
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs4823182
rs4823182
2 0.925 0.080 22 43981562 intron variant A/G snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs7643645
rs7643645
3 0.882 0.080 3 119806650 intron variant A/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs10499563
rs10499563
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2071303
rs2071303
6 0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36 0.010 1.000 1 2016 2016
dbSNP: rs2072907
rs2072907
3 0.882 0.120 22 43936773 intron variant C/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.010 1.000 1 2013 2013