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: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs3828336
rs3828336
2 0.925 0.080 2 240451099 non coding transcript exon variant C/G;T snv 0.26 0.010 1.000 1 2016 2016