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: rs183716
rs183716
1 19 54189703 5 prime UTR variant G/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs40167
rs40167
1 19 54179258 non coding transcript exon variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs40357
rs40357
1 19 54189676 5 prime UTR variant T/C;G snv 0.22 0.700 1.000 1 2012 2012