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: rs4647924
rs4647924
20 0.715 0.179 4 1801844 missense variant C/A,G,T snp 4.2E-06; 4.2E-06 3.2E-05; 3.2E-05 0.740 1.000 11 1997 2017
dbSNP: rs28933068
rs28933068
11 0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05 0.700 9 1995 2017
dbSNP: rs28931615
rs28931615
13 0.756 0.214 4 1804426 missense variant C/A,T snp 3.2E-05 0.700 7 1996 2017
dbSNP: rs28931614
rs28931614
11 0.744 0.179 4 1804392 missense variant G/A,C snp 0.700 6 1996 2017
dbSNP: rs78311289
rs78311289
27 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 5 2001 2017
dbSNP: rs28928868
rs28928868
3 0.923 0.107 4 1806164 missense variant G/C,T snp 4.0E-06 0.700 4 2001 2017
dbSNP: rs1057520044
rs1057520044
1 1.000 0.071 10 121498597 missense variant T/C snp 0.700 1 2007 2007
dbSNP: rs121909190
rs121909190
1 1.000 0.071 7 19116766 missense variant C/T snp 0.700 1 2007 2007
dbSNP: rs121909191
rs121909191
1 1.000 0.071 7 19116759 missense variant G/A,C snp 4.0E-06 0.700 1 2007 2007
dbSNP: rs121913105
rs121913105
16 0.724 0.179 4 1806163 missense variant A/C,T snp 0.700 1 2017 2017
dbSNP: rs121918491
rs121918491
5 0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs121918506
rs121918506
3 0.878 0.071 10 121496701 missense variant T/C,G snp 0.700 1 2007 2007
dbSNP: rs397515514
rs397515514
3 0.923 0.071 4 1807261 stop lost G/T snp 0.700 1 2017 2017
dbSNP: rs777169135
rs777169135
1 1.000 0.071 10 121488064 missense variant T/C,G snp 4.0E-06 0.700 1 2007 2007
dbSNP: rs1057518791
rs1057518791
8 0.923 0.107 8 115604739 stop gained C/T snp 0.700 0
dbSNP: rs1057518817
rs1057518817
5 1.000 0.071 9 35805944 frameshift variant AGTGGTCCTTTC/A in-del 0.700 0
dbSNP: rs757744435
rs757744435
5 1.000 0.071 9 35794009 missense variant A/G,T snp 0.700 0
dbSNP: rs77543610
rs77543610
14 0.724 0.071 10 121520160 missense variant G/C snp 0.040 1.000 4 1997 2008
dbSNP: rs79184941
rs79184941
29 0.638 0.321 10 121520163 missense variant G/A,C snp 5.6E-05; 4.0E-06 3.2E-05 0.040 1.000 4 2001 2008
dbSNP: rs121909627
rs121909627
8 0.769 0.179 8 38424690 missense variant G/C snp 4.0E-06 0.020 1.000 2 1997 2000
dbSNP: rs121918504
rs121918504
4 0.878 0.071 10 121517460 missense variant C/A,T snp 2.4E-05 0.020 1.000 2 2000 2005
dbSNP: rs104893895
rs104893895
2 0.923 0.071 5 174729222 missense variant C/A,T snp 0.010 1.000 1 1997 1997
dbSNP: rs121908671
rs121908671
3 0.878 0.107 11 68357801 missense variant G/A snp 0.010 1.000 1 2005 2005
dbSNP: rs121918488
rs121918488
6 0.801 0.107 10 121517379 missense variant A/C,G,T snp 0.010 1.000 1 1999 1999
dbSNP: rs140598
rs140598
5 0.821 0.143 15 48487333 missense variant G/A,C snp 3.2E-02 1.8E-02 0.010 1.000 1 1997 1997