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: rs113828117
rs113828117
1 1.000 0.040 4 9783008 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6283
rs6283
4 0.882 0.120 4 9783007 synonymous variant C/T snv 0.64 0.64 0.010 1.000 1 2016 2016