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: rs1042719
rs1042719
1 5 148827884 synonymous variant G/C snv 0.34 0.32 0.010 1.000 1 2005 2005
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs10895068
rs10895068
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1394272449
rs1394272449
1 8 37965417 missense variant G/C snv 6.7E-06 0.010 1.000 1 2005 2005
dbSNP: rs1802710
rs1802710
3 14 100734308 synonymous variant T/A;C snv 0.63 0.010 1.000 1 2008 2008
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs544850971
rs544850971
1 8 38150984 non coding transcript exon variant T/C snv 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs8192552
rs8192552
2 1.000 0.080 11 92969796 missense variant G/A snv 6.8E-02 7.4E-02 0.010 1.000 1 2018 2018