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: rs721917
rs721917
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.740 1.000 6 2011 2019
dbSNP: rs7078012
rs7078012
2 1.000 0.040 10 79945677 intron variant C/T snv 0.20 0.710 1.000 2 2011 2012
dbSNP: rs3923564
rs3923564
2 1.000 0.040 10 79976225 intron variant A/G snv 5.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs2243639
rs2243639
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.030 0.667 3 2010 2019
dbSNP: rs2245121
rs2245121
1 1.000 0.040 10 79939482 intron variant G/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs3088308
rs3088308
2 1.000 0.040 10 79938112 missense variant A/T snv 9.9E-02 6.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs6413520
rs6413520
1 1.000 0.040 10 79946525 synonymous variant A/G snv 4.6E-02 4.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs911887
rs911887
2 0.925 0.080 10 79941767 intron variant T/C snv 0.40 0.010 1.000 1 2011 2011