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: rs770572030
rs770572030
5 0.827 0.160 18 49581427 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.030 1.000 3 2014 2019
dbSNP: rs2000813
rs2000813
9 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.010 < 0.001 1 2009 2009