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: rs768950892
rs768950892
TRAPPC12
1 1.000 2 3478848 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 1 2017 2017
dbSNP: rs1135401749
rs1135401749
TRAPPC12
1 1.000 2 3387978 frameshift variant -/C delins 0.700 0
dbSNP: rs1553309983
rs1553309983
TRAPPC12
1 1.000 2 3387768 frameshift variant G/- del 0.700 0