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: rs1898830
rs1898830
10 0.807 0.280 4 153687301 intron variant A/G snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs72553885
rs72553885
1 17 16940378 stop gained G/A;C;T snv 1.2E-05; 4.0E-06; 5.6E-05 0.010 1.000 1 2019 2019