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: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.050 1.000 5 2008 2016
dbSNP: rs2298383
rs2298383
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.020 1.000 2 2008 2019
dbSNP: rs3761422
rs3761422
4 1.000 0.040 22 24430704 intron variant T/C snv 0.62 0.010 < 0.001 1 2010 2010