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: rs12704290
rs12704290
3 1.000 0.040 7 86798310 intron variant G/A snv 8.9E-02 0.720 0.900 10 2014 2019
dbSNP: rs1468412
rs1468412
1 1.000 0.040 7 86804135 intron variant A/T snv 0.39 0.040 0.500 4 2003 2014
dbSNP: rs2237562
rs2237562
1 1.000 0.040 7 86792916 intron variant T/C snv 0.40 0.020 1.000 2 2008 2017
dbSNP: rs2299225
rs2299225
1 1.000 0.040 7 86818264 intron variant T/G snv 2.3E-02 0.020 < 0.001 2 2005 2008
dbSNP: rs274622
rs274622
2 0.925 0.080 7 86643624 upstream gene variant C/T snv 0.67 0.020 1.000 2 2008 2015
dbSNP: rs2189814
rs2189814
3 0.925 0.040 7 86702440 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2228595
rs2228595
1 1.000 0.040 7 86786671 synonymous variant C/T snv 6.8E-02 4.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs6465084
rs6465084
5 0.851 0.040 7 86774159 intron variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs917071
rs917071
1 1.000 0.040 7 86724465 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017