Source: BEFREE ×
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: rs2228137
rs2228137
1 1.000 0.080 19 7698362 missense variant G/A;C snv 0.15; 7.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs28364072
rs28364072
1 1.000 0.080 19 7690399 splice region variant A/G snv 0.29 0.36 0.010 1.000 1 2013 2013
dbSNP: rs7249320
rs7249320
1 1.000 0.080 19 7698159 intron variant C/A;T snv 0.010 1.000 1 2013 2013