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: rs17822931
rs17822931
7 0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13 0.030 1.000 3 2010 2017
dbSNP: rs766209610
rs766209610
1 1.000 0.040 3 195568932 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015