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: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.020 1.000 2 2008 2011
dbSNP: rs150629733
rs150629733
4 0.851 0.080 3 148741190 missense variant T/C;G snv 4.0E-06; 8.8E-05 0.010 1.000 1 1999 1999