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: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.040 1.000 4 2014 2018
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs117039649
rs117039649
4 0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02 0.010 1.000 1 2018 2018