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: rs121918227
rs121918227
2 0.925 0.040 1 16996008 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs137853058
rs137853058
3 0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05 0.010 1.000 1 2001 2001