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: rs5905859
rs5905859
1 1.000 0.040 X 43732253 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6323
rs6323
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2014 2014