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: rs387906946
rs387906946
1 1.000 12 7690153 missense variant G/A snv 2.1E-04 4.9E-05 0.800 1.000 1 2010 2010
dbSNP: rs140926412
rs140926412
2 0.925 12 7690177 missense variant G/A;T snv 2.0E-03; 4.0E-06 0.700 0
dbSNP: rs387906794
rs387906794
2 0.925 8 96145336 missense variant C/A;T snv 4.9E-05 0.700 0