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: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.030 0.667 3 2011 2016
dbSNP: rs700519
rs700519
11 0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02 0.020 1.000 2 2005 2012
dbSNP: rs2899470
rs2899470
1 1.000 0.040 15 51211480 intron variant T/G snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs700518
rs700518
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.010 < 0.001 1 2007 2007