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: rs886039860
rs886039860
OFD1
1 1.000 0.080 X 13744424 start lost T/C;G snv 1.1E-05 0.800 1.000 5 2001 2013
dbSNP: rs312262830
rs312262830
OFD1
4 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1060500123
rs1060500123
OFD1
2 0.925 0.200 X 13767252 stop gained C/T snv 0.700 0
dbSNP: rs122460150
rs122460150
OFD1
1 1.000 0.080 X 13756659 missense variant A/C snv 0.700 0
dbSNP: rs1555900675
rs1555900675
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736476 splice acceptor variant A/- del 0.700 0
dbSNP: rs1555900734
rs1555900734
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736586 protein altering variant -/TAAAAGAGCTGC ins 0.700 0
dbSNP: rs1555901137
rs1555901137
OFD1
1 1.000 0.080 X 13738877 missense variant T/A snv 0.700 0
dbSNP: rs1555901146
rs1555901146
OFD1
1 1.000 0.080 X 13738895 frameshift variant C/- delins 0.700 0
dbSNP: rs1555901169
rs1555901169
OFD1
1 1.000 0.080 X 13739033 splice donor variant G/T snv 0.700 0
dbSNP: rs1555902640
rs1555902640
OFD1
2 0.925 0.200 X 13746360 stop gained -/A delins 0.700 0
dbSNP: rs1555902866
rs1555902866
OFD1
2 0.925 0.200 X 13746873 stop gained G/T snv 0.700 0
dbSNP: rs1555904480
rs1555904480
OFD1
1 1.000 0.080 X 13753373 frameshift variant AACTT/- del 0.700 0
dbSNP: rs1569145145
rs1569145145
OFD1
1 1.000 0.080 X 13758396 frameshift variant TT/- delins 0.700 0
dbSNP: rs312262806
rs312262806
TRAPPC2 ; OFD1
1 1.000 0.080 X 13735277 frameshift variant AG/- delins 0.700 0
dbSNP: rs312262807
rs312262807
TRAPPC2 ; OFD1
1 1.000 0.080 X 13735295 frameshift variant -/A delins 0.700 0
dbSNP: rs312262808
rs312262808
TRAPPC2 ; OFD1
1 1.000 0.080 X 13735346 missense variant G/A;C snv 0.700 0
dbSNP: rs312262809
rs312262809
TRAPPC2 ; OFD1
1 1.000 0.080 X 13735348 splice donor variant T/C snv 0.700 0
dbSNP: rs312262810
rs312262810
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736487 stop gained C/T snv 0.700 0
dbSNP: rs312262811
rs312262811
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736525 frameshift variant TGGAG/- delins 0.700 0
dbSNP: rs312262812
rs312262812
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736587 missense variant C/T snv 0.700 0
dbSNP: rs312262813
rs312262813
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736590 missense variant A/C snv 0.700 0
dbSNP: rs312262814
rs312262814
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736601 missense variant G/A snv 0.700 0
dbSNP: rs312262815
rs312262815
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736607 missense variant C/G snv 0.700 0
dbSNP: rs312262816
rs312262816
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736609 missense variant C/G snv 0.700 0
dbSNP: rs312262817
rs312262817
TRAPPC2 ; OFD1
1 1.000 0.080 X 13736613 stop gained C/A;T snv 5.4E-06 0.700 0