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: rs121918013
rs121918013
5 0.827 0.120 1 21563158 missense variant G/A snv 0.700 0
dbSNP: rs121918015
rs121918015
3 0.882 0.160 1 21563135 missense variant C/T snv 0.700 0
dbSNP: rs121918018
rs121918018
3 0.882 0.120 1 21568201 missense variant G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs200621180
rs200621180
1 1.000 0.120 1 21563266 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013