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: rs121434500
rs121434500
5 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs199473260
rs199473260
2 0.925 0.120 3 38555720 missense variant T/C snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs121908990
rs121908990
5 0.827 0.120 7 151560611 missense variant G/A;C snv 0.010 1.000 1 2001 2001
dbSNP: rs28933093
rs28933093
5 0.882 0.160 1 156130741 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs61672878
rs61672878
11 0.776 0.200 1 156136094 missense variant G/A;T snv 0.010 1.000 1 2003 2003
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2004 2004
dbSNP: rs62492438
rs62492438
1 1.000 0.080 7 150955422 missense variant G/A;C snv 7.1E-05 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs74315449
rs74315449
3 0.882 0.120 21 34370557 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2004 2004
dbSNP: rs10501920
rs10501920
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1805128
rs1805128
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs199472689
rs199472689
1 1.000 0.080 11 2527981 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs199473444
rs199473444
2 1.000 0.080 11 2445138 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs499818
rs499818
4 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs740363
rs740363
5 0.851 0.080 10 116816095 intron variant G/A snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs199473324
rs199473324
2 0.925 0.120 3 38550748 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs587777339
rs587777339
2 0.925 0.080 5 37341164 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs58912633
rs58912633
5 0.851 0.240 1 156130688 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs13141190
rs13141190
1 1.000 0.080 4 110807458 intergenic variant A/G snv 0.47 0.700 1.000 2 2007 2009
dbSNP: rs1448817
rs1448817
1 1.000 0.080 4 110719897 intergenic variant A/G snv 0.37 0.700 1.000 2 2007 2009
dbSNP: rs147750704
rs147750704
3 0.925 0.080 17 70175316 missense variant G/A snv 1.6E-04 7.0E-05 0.020 1.000 2 2005 2009
dbSNP: rs121908591
rs121908591
1 1.000 0.080 12 5045727 missense variant C/T snv 1.4E-04 4.9E-05 0.010 1.000 1 2009 2009