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: rs74315295
rs74315295
CPT2
5 0.851 0.200 1 53210822 missense variant T/A snv 2.4E-05 1.4E-05 0.700 1.000 7 1998 2015
dbSNP: rs121918528
rs121918528
CPT2
5 0.851 0.200 1 53210033 missense variant A/G snv 4.0E-05 5.6E-05 0.700 1.000 4 2000 2008
dbSNP: rs1057517477
rs1057517477
CPT2
3 0.882 0.200 1 53211219 frameshift variant CTTT/- del 4.1E-06 0.700 1.000 1 2002 2002
dbSNP: rs754363068
rs754363068
CPT2
3 0.882 0.200 1 53197050 frameshift variant -/GC delins 3.8E-05 1.4E-05 0.700 1.000 1 2000 2000
dbSNP: rs1057517473
rs1057517473
CPT2
3 0.882 0.200 1 53211321 splice donor variant T/G snv 0.700 0
dbSNP: rs1057517492
rs1057517492
CPT2
3 0.882 0.200 1 53211019 stop gained C/G;T snv 0.700 0
dbSNP: rs1057517493
rs1057517493
CPT2
3 0.882 0.200 1 53197018 frameshift variant C/- del 1.4E-05 0.700 0
dbSNP: rs1057517494
rs1057517494
CPT2
3 0.882 0.200 1 53197037 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517507
rs1057517507
CPT2
3 0.882 0.200 1 53211031 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs1057517510
rs1057517510
CPT2
3 0.882 0.200 1 53196994 frameshift variant -/GGGAGCCCCCAGTCGGCCC delins 0.700 0
dbSNP: rs1057517515
rs1057517515
CPT2
3 0.882 0.200 1 53210717 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517517
rs1057517517
CPT2
3 0.882 0.200 1 53211288 stop gained C/A snv 0.700 0
dbSNP: rs1057517525
rs1057517525
CPT2
4 0.851 0.200 1 53211019 stop gained C/TA delins 0.700 0
dbSNP: rs1557713988
rs1557713988
CPT2
1 1.000 0.080 1 53202322 splice acceptor variant G/A snv 0.700 0
dbSNP: rs201065226
rs201065226
CPT2
4 0.851 0.200 1 53210044 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs28936375
rs28936375
CPT2
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs74315294
rs74315294
CPT2
6 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.700 0
dbSNP: rs74315296
rs74315296
CPT2
6 0.827 0.240 1 53211181 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs74315298
rs74315298
CPT2
4 0.851 0.200 1 53210354 missense variant C/T snv 5.2E-05 3.8E-04 0.700 0
dbSNP: rs754386565
rs754386565
CPT2
4 0.882 0.200 1 53211088 stop gained C/T snv 1.6E-05 0.700 0
dbSNP: rs755830520
rs755830520
CPT2
3 0.882 0.200 1 53210280 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs756931329
rs756931329
CPT2
5 0.851 0.200 1 53211043 stop gained A/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs761438840
rs761438840
CPT2
3 0.882 0.200 1 53210727 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs767004984
rs767004984
CPT2
3 0.882 0.200 1 53213392 frameshift variant CT/- del 4.0E-06 7.0E-06 0.700 0