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: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 3 2009 2012
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2009 2012
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs10224002
rs10224002
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 1 2009 2009
dbSNP: rs10495928
rs10495928
5 2 46126027 intron variant A/G snv 0.36 0.700 1.000 1 2009 2009
dbSNP: rs11065987
rs11065987
17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs11089823
rs11089823
4 22 37113139 upstream gene variant T/C snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs11089824
rs11089824
4 22 37113146 upstream gene variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs11914132
rs11914132
3 22 37113047 upstream gene variant C/T snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs129128
rs129128
7 6 26125114 intron variant C/T snv 0.91 0.700 1.000 1 2009 2009
dbSNP: rs130624
rs130624
6 22 37042611 regulatory region variant G/T snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs16926246
rs16926246
HK1
4 10 69333636 intron variant C/T snv 0.12 0.700 1.000 1 2009 2009
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2009 2009
dbSNP: rs198833
rs198833
5 6 26114280 downstream gene variant G/A snv 0.87 0.700 1.000 1 2009 2009
dbSNP: rs198846
rs198846
7 6 26107235 downstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs198851
rs198851
15 6 26104404 downstream gene variant T/A;C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs228129
rs228129
6 22 37032558 upstream gene variant A/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs228907
rs228907
2 22 37101553 intron variant G/A snv 0.33 0.700 1.000 1 2009 2009
dbSNP: rs228918
rs228918
3 22 37110640 upstream gene variant T/C snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs228919
rs228919
3 22 37110673 upstream gene variant G/T snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs228921
rs228921
3 22 37110836 upstream gene variant A/G snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs2413450
rs2413450
6 22 37074184 intron variant T/C snv 0.61 0.700 1.000 1 2009 2009
dbSNP: rs5750373
rs5750373
4 22 37028990 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2009 2009
dbSNP: rs5756520
rs5756520
4 22 37112467 upstream gene variant G/A snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs6013509
rs6013509
2 20 52701812 downstream gene variant G/A;C snv 0.700 1.000 1 2009 2009