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: rs1020856343
rs1020856343
5 0.851 0.240 5 132393705 missense variant C/T snv 4.0E-06 0.050 0.800 5 2006 2012
dbSNP: rs2631367
rs2631367
4 0.925 0.120 5 132369766 5 prime UTR variant C/G snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs2631372
rs2631372
2 1.000 0.040 5 132367886 intron variant G/C snv 0.29 0.010 1.000 1 2011 2011