Source: ALL
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: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2019 2019