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: rs11643741
rs11643741
1 16 86334993 splice region variant T/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs3828516
rs3828516
1 16 86335700 non coding transcript exon variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4083242
rs4083242
1 16 86334920 non coding transcript exon variant G/A snv 0.35 0.700 1.000 1 2012 2012