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: rs1912826
rs1912826
4 4 186228386 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3733402
rs3733402
5 1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs4253238
rs4253238
4 0.925 0.080 4 186227233 intron variant C/T snv 0.59 0.700 1.000 1 2012 2012