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: rs2235371
rs2235371
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.740 1.000 5 2004 2015
dbSNP: rs2073485
rs2073485
1 1.000 0.080 1 209789449 intron variant G/A snv 0.21 0.700 1.000 2 2010 2012
dbSNP: rs861020
rs861020
1 1.000 0.080 1 209803766 intron variant A/G snv 0.82 0.700 1.000 2 2010 2012
dbSNP: rs1044516
rs1044516
1 1.000 0.080 1 209786269 3 prime UTR variant G/T snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs2013162
rs2013162
5 0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 0.700 1.000 1 2010 2010
dbSNP: rs2235375
rs2235375
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.020 0.500 2 2015 2018