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: rs104894948
rs104894948
TRAPPC2
2 0.925 0.080 X 13716080 missense variant A/G snv 0.700 1.000 3 1999 2001
dbSNP: rs769218264
rs769218264
TRAPPC2B ; ZNF547
1 1.000 0.080 19 57365051 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 3 1999 2001
dbSNP: rs746032983
rs746032983
TRAPPC2 ; OFD1
1 1.000 0.080 X 13734121 stop gained C/T snv 3.9E-04 3.3E-04 0.700 0