Source: CURATED ×
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: rs758937799
rs758937799
TBCE
2 0.925 0.280 1 235401545 frameshift variant AG/- del 3.2E-05 0.700 1.000 1 2002 2002
dbSNP: rs767004810
rs767004810
TBCE
2 0.925 0.280 1 235401553 inframe deletion GCCACGAAGGGA/- delins 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs121908384
rs121908384
TBCE
1 1.000 0.280 1 235437471 stop gained T/A snv 0.700 0