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: rs397507549
rs397507549
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 2 2005 2006
dbSNP: rs121918460
rs121918460
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs387906819
rs387906819
6 0.882 0.120 18 22181517 missense variant G/A snv 0.700 0