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: rs779838446
rs779838446
2 0.925 0.080 8 42756217 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.020 1.000 2 2008 2010
dbSNP: rs684513
rs684513
5 0.925 0.080 15 78566058 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2229163
rs2229163
1 1.000 0.080 11 46385307 synonymous variant G/A snv 1.0E-02 3.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005
dbSNP: rs111325002
rs111325002
2 1.000 0.080 3 96134788 intergenic variant A/G snv 8.6E-03 0.800 1.000 1 2014 2014
dbSNP: rs12071360
rs12071360
1 1.000 0.080 1 233608833 intergenic variant T/C snv 0.10 0.700 1.000 1 2014 2014
dbSNP: rs13273442
rs13273442
4 0.882 0.080 8 42688874 intergenic variant A/G snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs1868152
rs1868152
2 0.925 0.080 3 186502274 intergenic variant A/G;T snv 0.85 0.010 1.000 1 2018 2018
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6719226
rs6719226
1 1.000 0.080 2 25173143 upstream gene variant C/G snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs6989250
rs6989250
1 1.000 0.080 8 53253835 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013