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: rs12709889
rs12709889
2 19 44949982 upstream gene variant G/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs2288912
rs2288912
2 19 44945942 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs5157
rs5157
2 19 44943904 intron variant T/C snv 0.60 0.700 1.000 1 2012 2012
dbSNP: rs5167
rs5167
7 1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39 0.700 1.000 1 2012 2012