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: rs748799635
rs748799635
1 1.000 0.080 12 102475727 missense variant C/T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs972936
rs972936
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2012 2012