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: rs387906680
rs387906680
1 1.000 6 32841671 missense variant C/A;T snv 0.800 1.000 6 2010 2016
dbSNP: rs1554239543
rs1554239543
1 1.000 6 32842766 missense variant T/G snv 0.700 1.000 6 2010 2016
dbSNP: rs748082671
rs748082671
1 1.000 6 32843013 missense variant G/A snv 3.2E-05 5.6E-05 0.700 0