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: rs9679162
rs9679162
1 1.000 0.071 2 31024648 intron variant G/T snp 0.47 0.030 1.000 3 2011 2018
dbSNP: rs116350678
rs116350678
5 0.846 0.071 16 298233 missense variant C/T snp 4.8E-03 2.1E-02 0.710 1.000 2 2002 2013
dbSNP: rs4147581
rs4147581
1 1.000 0.071 11 67584114 intron variant C/G snp 0.49 0.40 0.020 1.000 2 2016 2017
dbSNP: rs4678680
rs4678680
1 1.000 0.071 3 32978543 intergenic variant G/T snp 0.75 0.800 2 2011 2013
dbSNP: rs1053004
rs1053004
2 1.000 0.071 17 42314074 3 prime UTR variant G/A snp 0.49 0.010 1.000 1 2013 2013
dbSNP: rs1053096
rs1053096
1 1.000 0.071 2 100996153 3 prime UTR variant T/C snp 0.61 0.010 1.000 1 2014 2014
dbSNP: rs1053133
rs1053133
1 1.000 0.071 6 41932887 3 prime UTR variant C/A snp 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs1057317
rs1057317
1 1.000 0.071 9 117715764 3 prime UTR variant C/A snp 0.010 1.000 1 2015 2015
dbSNP: rs10773771
rs10773771
1 1.000 0.071 12 130371771 3 prime UTR variant C/T snp 0.51 0.010 1.000 1 2013 2013
dbSNP: rs10789859
rs10789859
1 1.000 0.071 11 112089809 intron variant T/C snp 0.32 0.010 1.000 1 2016 2016
dbSNP: rs111904020
rs111904020
1 1.000 0.071 17 42314141 3 prime UTR variant A/C snp 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
5 0.846 0.071 17 7676154 frameshift variant G/GC in-del 0.010 1.000 1 2017 2017
dbSNP: rs11685758
rs11685758
1 1.000 0.071 2 186668641 non coding transcript exon variant C/T snp 0.27 0.010 1.000 1 2009 2009
dbSNP: rs117208012
rs117208012
4 0.846 0.071 16 297063 missense variant C/A,T snp 8.0E-06; 1.6E-02 2.0E-02 0.700 1 2002 2002
dbSNP: rs11879293
rs11879293
1 1.000 0.071 19 10961934 intron variant G/A,C,T snp 0.37 0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497
1 1.000 0.071 4 184650403 intron variant C/G,T snp 3.2E-05; 0.30 0.010 1.000 1 2017 2017
dbSNP: rs121434587
rs121434587
1 1.000 0.071 6 160069961 missense variant G/T snp 0.700 1 1998 1998
dbSNP: rs121434588
rs121434588
1 1.000 0.071 6 160070006 missense variant G/A snp 0.700 1 1998 1998
dbSNP: rs121913675
rs121913675
MET
5 0.821 0.071 7 116778953 missense variant C/T snp 0.700 1 1999 1999
dbSNP: rs121913676
rs121913676
MET
6 0.821 0.071 7 116783421 missense variant G/A,C,T snp 0.700 1 1999 1999
dbSNP: rs121913677
rs121913677
MET
5 0.821 0.071 7 116783402 missense variant A/G snp 0.700 1 1999 1999
dbSNP: rs12377632
rs12377632
1 1.000 0.071 9 117710452 intron variant T/A,C snp 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1353702185
rs1353702185
1 1.000 0.071 12 68839311 C/G snp 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1421
rs1421
1 1.000 0.071 2 47386731 3 prime UTR variant T/C snp 0.11 0.010 1.000 1 2015 2015
dbSNP: rs142439607
rs142439607
1 1.000 0.071 3 8548890 missense variant A/G snp 1.1E-03 3.0E-03 0.010 1.000 1 2012 2012