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: rs138742347
rs138742347
1 1.000 0.120 1 9722244 splice region variant C/T snv 5.8E-04 2.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs148838884
rs148838884
1 1.000 0.120 1 9722067 synonymous variant C/T snv 4.4E-05 5.6E-05 0.010 1.000 1 2017 2017