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 0.730 1.000 5 1996 2017
dbSNP: rs74315294
rs74315294
CPT2
6 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.720 1.000 19 1989 2017
dbSNP: rs28936375
rs28936375
CPT2
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.720 1.000 8 1995 2008
dbSNP: rs74315296
rs74315296
CPT2
6 0.827 0.240 1 53211181 missense variant C/T snv 4.0E-06 1.4E-05 0.710 1.000 3 1999 2009
dbSNP: rs28936674
rs28936674
CPT2
3 0.882 0.200 1 53210194 stop gained G/A;T snv 8.0E-06 7.0E-06 0.710 1.000 1 1996 1996
dbSNP: rs74315293
rs74315293
CPT2
5 0.851 0.200 1 53213509 missense variant C/T snv 2.4E-05 1.4E-05 0.710 1.000 1 2007 2007
dbSNP: rs368311455
rs368311455
CPT2
4 0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 0.700 1.000 6 2006 2017
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 5 2000 2008
dbSNP: rs397509431
rs397509431
CPT2
2 0.925 0.120 1 53210912 frameshift variant GA/- delins 2.1E-04 1.0E-04 0.700 1.000 4 1999 2012
dbSNP: rs74315298
rs74315298
CPT2
4 0.851 0.200 1 53210354 missense variant C/T snv 5.2E-05 3.8E-04 0.700 1.000 4 1998 2016
dbSNP: rs201065226
rs201065226
CPT2
4 0.851 0.200 1 53210044 stop gained C/T snv 8.0E-06 7.0E-06 0.700 1.000 3 1998 2012
dbSNP: rs760255368
rs760255368
CPT2
1 1.000 0.080 1 53213400 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 1.000 3 1996 2013
dbSNP: rs727503887
rs727503887
CPT2
2 0.925 0.120 1 53210560 stop gained C/T snv 2.4E-05 2.8E-05 0.700 1.000 2 2003 2016
dbSNP: rs515726173
rs515726173
CPT2
1 1.000 0.080 1 53210208 splice acceptor variant GAACCCTGCAAAAAGTGACACTATC/T delins 8.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs515726179
rs515726179
CPT2
1 1.000 0.080 1 53213540 frameshift variant AGGCCTTAGAAGA/- delins 0.700 1.000 1 2008 2008
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 1.000 1 2006 2006
dbSNP: rs917744011
rs917744011
CPT2
2 0.925 0.120 1 53197041 frameshift variant A/- del 7.6E-06 4.9E-05 0.700 1.000 1 2012 2012
dbSNP: rs1057517525
rs1057517525
CPT2
4 0.851 0.200 1 53211019 stop gained C/TA delins 0.700 0
dbSNP: rs1238901632
rs1238901632
CPT2
1 1.000 0.080 1 53210397 frameshift variant AC/- delins 0.700 0
dbSNP: rs28936673
rs28936673
CPT2
3 0.882 0.200 1 53213501 missense variant A/C snv 1.2E-05 0.700 0
dbSNP: rs515726174
rs515726174
CPT2
2 0.925 0.160 1 53210315 missense variant T/C snv 0.700 0
dbSNP: rs515726175
rs515726175
CPT2
1 1.000 0.080 1 53210657 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs515726176
rs515726176
CPT2
1 1.000 0.080 1 53210819 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs515726177
rs515726177
CPT2
3 0.882 0.200 1 53210126 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs515726178
rs515726178
CPT2
1 1.000 0.080 1 53213355 frameshift variant C/- del 0.700 0