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: rs2286963
rs2286963
2 2 210195326 missense variant T/G snv 0.30 0.27 0.700 1.000 2 2010 2013
dbSNP: rs3764913
rs3764913
3 1.000 0.080 2 210210185 non coding transcript exon variant T/C snv 0.30 0.27 0.700 1.000 1 2013 2013
dbSNP: rs7601356
rs7601356
1 2 210191933 intron variant T/C snv 0.28 0.700 1.000 1 2013 2013