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: rs35986369
rs35986369
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
dbSNP: rs551990652
rs551990652
1 1.000 0.040 2 130120359 missense variant C/T snv 3.2E-05 7.1E-06 0.010 1.000 1 2004 2004
dbSNP: rs56902012
rs56902012
1 1.000 0.040 8 24914799 missense variant G/A;C snv 3.4E-04; 1.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs750196294
rs750196294
2 1.000 0.040 5 1416151 synonymous variant G/A snv 2.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs766662990
rs766662990
4 0.851 0.120 17 35878529 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2003 2005
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2005 2005
dbSNP: rs1453063924
rs1453063924
1 1.000 0.040 2 156329978 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs283413
rs283413
2 0.925 0.080 4 99347033 stop gained C/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs370102323
rs370102323
2 0.925 0.080 11 27658085 synonymous variant C/A;T snv 4.0E-06; 4.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs74315352
rs74315352
6 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs755206701
rs755206701
1 1.000 0.040 19 10284610 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs932546861
rs932546861
1 1.000 0.040 4 99347032 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs9808753
rs9808753
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2005 2005
dbSNP: rs3738136
rs3738136
3 0.882 0.040 1 20645618 missense variant G/A snv 9.2E-02 5.0E-02 0.020 1.000 2 2004 2006
dbSNP: rs10518765
rs10518765
3 1.000 0.040 15 54388434 intron variant A/C snv 0.16 0.700 1.000 1 2006 2006
dbSNP: rs10963676
rs10963676
1 1.000 0.040 9 18622045 intron variant T/C;G snv 0.700 1.000 1 2006 2006
dbSNP: rs12069733
rs12069733
2 1.000 0.040 1 43475837 TF binding site variant G/A snv 0.37 0.700 1.000 1 2006 2006
dbSNP: rs12364577
rs12364577
1 1.000 0.040 11 49685809 intron variant A/C snv 0.35 0.700 1.000 1 2006 2006
dbSNP: rs13227860
rs13227860
2 1.000 0.040 7 22114836 downstream gene variant G/A snv 0.26 0.700 1.000 1 2006 2006
dbSNP: rs1468375
rs1468375
1 1.000 0.040 7 145337519 intergenic variant C/A;T snv 0.700 1.000 1 2006 2006
dbSNP: rs1504212
rs1504212
1 1.000 0.040 5 53824125 upstream gene variant C/A snv 0.51 0.700 1.000 1 2006 2006
dbSNP: rs1799930
rs1799930
17 0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs199657839
rs199657839
1 1.000 0.040 6 161548937 missense variant G/A snv 2.4E-03 5.2E-04 0.010 1.000 1 2006 2006
dbSNP: rs213462
rs213462
1 1.000 0.040 X 83449447 intergenic variant A/C snv 0.50 0.700 1.000 1 2006 2006