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: rs1347223331
rs1347223331
TRAPPC6B
1 1.000 14 39158404 splice acceptor variant T/C snv 4.6E-06 0.700 0
dbSNP: rs377626365
rs377626365
TRAPPC6B
1 1.000 14 39159508 stop gained G/A snv 8.1E-06 2.8E-05 0.700 0