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: rs104893912
rs104893912
1 1.000 0.080 5 143281905 missense variant A/G snv 0.810 1.000 15 1991 2019
dbSNP: rs104893913
rs104893913
1 1.000 0.080 5 143310135 missense variant C/T snv 4.0E-06 0.810 1.000 15 1991 2016
dbSNP: rs104893914
rs104893914
2 1.000 0.080 5 143282714 missense variant C/T snv 0.810 1.000 15 1991 2016
dbSNP: rs104893908
rs104893908
2 0.925 0.160 5 143295561 missense variant T/A snv 0.800 1.000 14 1991 2016
dbSNP: rs104893909
rs104893909
2 0.925 0.160 5 143300556 missense variant A/T snv 0.800 1.000 14 1991 2016
dbSNP: rs104893910
rs104893910
1 1.000 0.080 5 143281982 missense variant A/C;G snv 0.800 1.000 14 1991 2016
dbSNP: rs121909727
rs121909727
1 1.000 0.080 5 143282014 missense variant A/G snv 0.800 1.000 14 1991 2016
dbSNP: rs1027058734
rs1027058734
1 1.000 0.080 5 143282038 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs587776832
rs587776832
1 1.000 0.080 5 143298666 splice donor variant CTCA/- delins 0.700 0
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.020 0.500 2 2006 2012
dbSNP: rs28451617
rs28451617
4 0.851 0.120 7 99735142 5 prime UTR variant C/T snv 9.2E-03 3.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs37973
rs37973
7 0.807 0.280 7 7968245 intron variant G/A;C snv 0.010 1.000 1 2018 2018