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: rs242947
rs242947
2 1.000 0.040 17 45839770 intron variant G/A snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs16940655
rs16940655
1 17 45816520 missense variant C/A;T snv 4.0E-06; 6.4E-03 0.010 1.000 1 2013 2013