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: rs12456492
rs12456492
1 0.882 0.080 18 43093415 intron variant A/G snv 0.33 0.890 0.909 3 2012 2020
dbSNP: rs4130047
rs4130047
1 0.925 0.080 18 43098270 intron variant T/A;C snv 0.800 1.000 2 2011 2016