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: rs312262830
rs312262830
OFD1
4 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 2 2008 2014
dbSNP: rs312262894
rs312262894
OFD1
1 1.000 0.120 X 13768063 frameshift variant G/- del 0.700 1.000 1 2015 2015
dbSNP: rs863225211
rs863225211
OFD1
1 1.000 0.120 X 13736643 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225212
rs863225212
OFD1
1 1.000 0.120 X 13767195 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225213
rs863225213
TRAPPC2 ; OFD1
1 1.000 0.120 X 13736515 missense variant A/G snv 9.5E-06 0.700 1.000 1 2015 2015
dbSNP: rs312262895
rs312262895
OFD1
1 1.000 0.120 X 13768137 frameshift variant AGACAAA/- delins 0.700 0
dbSNP: rs398122866
rs398122866
OFD1
2 0.925 0.160 X 13746806 inframe deletion TTAAAATGGAAGCAAAAA/- delins 0.700 0