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: rs121909116
rs121909116
ECM1
1 1.000 0.080 1 150510989 missense variant T/A snv 1.2E-05 3.5E-05 0.800 1.000 2 2002 2003
dbSNP: rs869025566
rs869025566
ECM1
1 1.000 0.080 1 150511148 missense variant T/G snv 0.720 1.000 2 2014 2018
dbSNP: rs869025563
rs869025563
ECM1
1 1.000 0.080 1 150511574 stop gained C/T snv 4.0E-06 0.710 1.000 1 2004 2004
dbSNP: rs869025565
rs869025565
ECM1
1 1.000 0.080 1 150510997 frameshift variant T/- del 4.0E-06 1.4E-05 0.700 1.000 3 2007 2015
dbSNP: rs869025564
rs869025564
ECM1
1 1.000 0.080 1 150510990 frameshift variant -/C delins 0.700 1.000 2 2002 2006
dbSNP: rs746217361
rs746217361
ECM1
1 1.000 0.080 1 150511475 stop gained C/A;T snv 4.0E-05; 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs869025567
rs869025567
ECM1
1 1.000 0.080 1 150509553 stop gained GC/TT mnv 0.700 1.000 1 2007 2007
dbSNP: rs121909114
rs121909114
ECM1
1 1.000 0.080 1 150511784 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs121909115
rs121909115
ECM1
1 1.000 0.080 1 150509696 stop gained C/T snv 4.4E-05 2.1E-05 0.700 0
dbSNP: rs1560265435
rs1560265435
ECM1
1 1.000 0.080 1 150510970 stop gained G/A snv 0.700 0
dbSNP: rs1560267428
rs1560267428
ECM1
1 1.000 0.080 1 150513236 splice acceptor variant G/T snv 0.700 0
dbSNP: rs778473713
rs778473713
ECM1
1 1.000 0.080 1 150511767 frameshift variant A/- del 5.6E-05 4.2E-05 0.700 0
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs369508778
rs369508778
ECM1
1 1.000 0.080 1 150511490 stop gained G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs370285146
rs370285146
ECM1
1 1.000 0.080 1 150513285 stop gained C/T snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs3737240
rs3737240
ECM1
3 0.882 0.200 1 150510879 missense variant C/T snv 0.34 0.29 0.010 1.000 1 2015 2015