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: rs7941541
rs7941541
1 11 86147496 intergenic variant G/A snv 0.73 0.700 1.000 1 2009 2009
dbSNP: rs5167
rs5167
7 1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39 0.700 1.000 1 2009 2009
dbSNP: rs10402271
rs10402271
7 1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs1048699
rs1048699
2 1.000 0.080 19 45147128 3 prime UTR variant C/T snv 9.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs1114832
rs1114832
2 1.000 0.080 19 45132943 intron variant C/T snv 9.2E-02 0.700 1.000 1 2009 2009
dbSNP: rs11894266
rs11894266
2 1.000 0.080 2 169780132 downstream gene variant C/T snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs12610605
rs12610605
2 1.000 0.080 19 44867581 intron variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs1871047
rs1871047
2 1.000 0.080 19 44848489 intron variant A/G snv 0.31 0.700 1.000 1 2009 2009
dbSNP: rs2582367
rs2582367
2 1.000 0.080 8 27622508 regulatory region variant C/T snv 0.64 0.700 1.000 1 2009 2009
dbSNP: rs2927438
rs2927438
6 0.925 0.080 19 44738850 intergenic variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs2965101
rs2965101
6 1.000 0.080 19 44734556 intergenic variant T/C snv 0.34 0.700 1.000 1 2009 2009
dbSNP: rs3760627
rs3760627
2 1.000 0.080 19 44953923 non coding transcript exon variant T/C snv 0.80 0.51 0.700 1.000 1 2009 2009
dbSNP: rs377702
rs377702
2 1.000 0.080 19 44859410 intron variant G/A snv 0.34 0.700 1.000 1 2009 2009
dbSNP: rs543293
rs543293
3 0.925 0.080 11 86109035 regulatory region variant A/G snv 0.72 0.700 1.000 1 2009 2009
dbSNP: rs8103315
rs8103315
2 1.000 0.080 19 44750911 intron variant C/A snv 9.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs8106922
rs8106922
5 1.000 0.080 19 44898409 intron variant A/G snv 0.36 0.700 1.000 1 2009 2009
dbSNP: rs12518099
rs12518099
3 0.925 0.120 5 90250292 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs3842727
rs3842727
TH
3 1.000 0.120 11 2163618 upstream gene variant G/T snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs428595
rs428595
3 1.000 0.120 22 21662102 non coding transcript exon variant A/G snv 0.98 0.700 1.000 1 2018 2018
dbSNP: rs4712523
rs4712523
3 0.925 0.120 6 20657333 intron variant A/G snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs6859
rs6859
10 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs7171171
rs7171171
3 0.925 0.120 15 38614840 intergenic variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.700 1.000 1 2009 2009
dbSNP: rs157580
rs157580
14 0.882 0.160 19 44892009 intron variant G/A snv 0.69 0.700 1.000 1 2009 2009
dbSNP: rs2943641
rs2943641
18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.700 1.000 1 2009 2009