Source: ALL
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: rs200440467
rs200440467
AP4S1
2 0.925 0.080 14 31072968 stop gained C/A;T snv 4.0E-06; 1.2E-04 0.700 0
dbSNP: rs377679827
rs377679827
AP4S1
1 1.000 14 31066336 splice donor variant T/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs387906970
rs387906970
AP4S1
1 1.000 14 31066320 stop gained C/A;G;T snv 9.7E-04; 2.4E-05 0.700 0
dbSNP: rs876661295
rs876661295
AP4S1
1 1.000 14 31066333 splice region variant AAGT/- delins 0.700 0