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: rs1055176086
rs1055176086
CPT1A
1 1.000 0.080 11 68799217 splice donor variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1057516304
rs1057516304
CPT1A
1 1.000 0.080 11 68781825 frameshift variant T/- del 0.700 0
dbSNP: rs1057516396
rs1057516396
CPT1A
1 1.000 0.080 11 68793363 stop gained G/A snv 0.700 0
dbSNP: rs1057516434
rs1057516434
CPT1A
1 1.000 0.080 11 68812532 stop gained C/T snv 0.700 0
dbSNP: rs1057516586
rs1057516586
CPT1A
1 1.000 0.080 11 68773294 stop gained G/A snv 0.700 0
dbSNP: rs1057516800
rs1057516800
CPT1A
1 1.000 0.080 11 68761565 stop gained -/TTTT delins 0.700 0
dbSNP: rs1057517046
rs1057517046
CPT1A
1 1.000 0.080 11 68775433 splice acceptor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057517188
rs1057517188
CPT1A
1 1.000 0.080 11 68807639 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057517245
rs1057517245
CPT1A
1 1.000 0.080 11 68794913 splice acceptor variant T/C snv 0.700 0
dbSNP: rs112498048
rs112498048
CPT1A
1 1.000 0.080 11 68793314 splice donor variant C/T snv 0.700 0
dbSNP: rs1169875761
rs1169875761
CPT1A
1 1.000 0.080 11 68774782 intron variant AAAAAAAAA/-;AA;AAA;AAAAAAA;AAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAAAA delins 0.700 0
dbSNP: rs1224226554
rs1224226554
CPT1A
1 1.000 0.080 11 68793313 splice donor variant A/G snv 4.1E-06 0.700 0
dbSNP: rs1269472669
rs1269472669
CPT1A
1 1.000 0.080 11 68760306 missense variant G/A;C snv 0.700 0
dbSNP: rs1282293820
rs1282293820
CPT1A
1 1.000 0.080 11 68775315 splice donor variant C/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs148059333
rs148059333
CPT1A
1 1.000 0.080 11 68784814 splice donor variant C/T snv 4.1E-05 4.9E-05 0.700 1.000 1 2016 2016
dbSNP: rs1555226417
rs1555226417
CPT1A
1 1.000 0.080 11 68761533 splice donor variant A/C snv 0.700 0
dbSNP: rs1555227607
rs1555227607
CPT1A
1 1.000 0.080 11 68773431 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555228470
rs1555228470
CPT1A
1 1.000 0.080 11 68780639 splice donor variant C/T snv 0.700 0
dbSNP: rs1555228640
rs1555228640
CPT1A
1 1.000 0.080 11 68781767 splice donor variant CCTGTCGTA/- delins 0.700 0
dbSNP: rs1555229059
rs1555229059
CPT1A
1 1.000 0.080 11 68784813 splice donor variant A/G snv 0.700 0
dbSNP: rs1555230326
rs1555230326
CPT1A
1 1.000 0.080 11 68794912 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555230494
rs1555230494
CPT1A
1 1.000 0.080 11 68796855 splice donor variant C/G snv 0.700 0
dbSNP: rs1555230518
rs1555230518
CPT1A
1 1.000 0.080 11 68796935 splice acceptor variant T/C snv 0.700 0
dbSNP: rs189174414
rs189174414
CPT1A
1 1.000 0.080 11 68780734 missense variant T/G snv 2.2E-04 2.0E-04 0.700 1.000 1 2012 2012
dbSNP: rs28936374
rs28936374
CPT1A
1 1.000 0.080 11 68760241 missense variant C/T snv 0.800 1.000 8 1998 2004