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: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.100 0.957 23 2012 2019
dbSNP: rs184277092
rs184277092
1 1.000 0.040 16 46669007 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016