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: rs41348347
rs41348347
3 0.882 0.120 20 23048049 missense variant C/A snv 8.4E-03 2.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs41400249
rs41400249
1 1.000 0.120 20 23048297 missense variant C/T snv 9.9E-04 3.7E-04 0.010 1.000 1 2014 2014