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: rs3130975
rs3130975
5 0.925 0.080 6 31114061 upstream gene variant C/T snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs1042147
rs1042147
4 1.000 6 31115379 3 prime UTR variant A/G snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs3094217
rs3094217
4 1.000 6 31115879 3 prime UTR variant G/A snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs1042134
rs1042134
4 1.000 6 31115887 3 prime UTR variant G/A snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs3130981
rs3130981
5 0.925 0.080 6 31116036 missense variant T/C;G snv 0.76 0.700 1.000 2 2009 2010
dbSNP: rs3130982
rs3130982
4 1.000 6 31116298 synonymous variant G/C;T snv 0.56; 1.3E-02 0.700 1.000 1 2010 2010
dbSNP: rs1042126
rs1042126
4 1.000 6 31116511 synonymous variant T/C snv 0.57 0.58 0.700 1.000 1 2010 2010
dbSNP: rs1062470
rs1062470
5 0.925 0.040 6 31116658 synonymous variant G/A snv 0.37 0.41 0.700 1.000 1 2009 2009
dbSNP: rs3130983
rs3130983
5 0.925 0.120 6 31117015 synonymous variant C/T snv 0.57 0.58 0.700 1.000 1 2010 2010
dbSNP: rs3130984
rs3130984
4 1.000 6 31117187 missense variant T/C snv 0.76; 4.0E-06 0.78 0.700 1.000 1 2010 2010
dbSNP: rs575513907
rs575513907
4 1.000 6 31117187 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs3132553
rs3132553
4 1.000 6 31117423 synonymous variant A/G snv 0.75 0.78 0.700 1.000 1 2010 2010
dbSNP: rs386580037
rs386580037
4 1.000 6 31117423 synonymous variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs3132552
rs3132552
4 1.000 6 31117492 synonymous variant A/G snv 0.76 0.78 0.700 1.000 1 2010 2010
dbSNP: rs386580036
rs386580036
4 1.000 6 31117492 synonymous variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs3094214
rs3094214
5 0.925 0.120 6 31117605 non coding transcript exon variant C/A snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs540385376
rs540385376
5 0.925 0.120 6 31117605 non coding transcript exon variant C/A snv 0.700 1.000 1 2010 2010
dbSNP: rs3094212
rs3094212
5 1.000 6 31117993 non coding transcript exon variant G/A snv 0.58 0.700 1.000 2 2009 2010
dbSNP: rs551894425
rs551894425
4 1.000 6 31117993 non coding transcript exon variant G/A snv 0.700 1.000 2 2009 2010
dbSNP: rs3132551
rs3132551
4 1.000 6 31118105 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs546583999
rs546583999
4 1.000 6 31118105 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3094211
rs3094211
4 1.000 6 31118625 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs555542204
rs555542204
4 1.000 6 31118625 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs12207756
rs12207756
4 1.000 6 31118905 intron variant C/T snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs541134362
rs541134362
4 1.000 6 31118905 intron variant C/T snv 0.700 1.000 1 2010 2010