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: rs104893677
rs104893677
1 1.000 0.120 3 148741880 missense variant C/T snv 1.4E-05 0.800 1.000 1 2005 2005
dbSNP: rs387906577
rs387906577
1 1.000 0.120 3 148741144 frameshift variant -/T delins 4.0E-06; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397514687
rs397514687
1 1.000 0.120 3 148741411 stop gained C/G;T snv 4.1E-06; 1.6E-05 0.700 0