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: rs267606962
rs267606962
TSPAN1 ; POMGNT1
3 0.882 0.120 1 46189539 missense variant C/G;T snv 8.0E-06; 1.6E-05 0.710 1.000 9 2003 2014
dbSNP: rs193919336
rs193919336
TSPAN1 ; POMGNT1
3 0.882 0.160 1 46193873 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 10 2004 2016
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
5 0.827 0.160 1 46192168 missense variant C/T snv 2.4E-05 4.2E-05 0.700 1.000 5 2004 2012
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
4 0.851 0.120 1 46194860 synonymous variant G/A snv 4.0E-05 2.1E-05 0.700 1.000 4 2007 2013
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
5 0.827 0.160 1 46192397 missense variant G/A snv 3.5E-05 0.700 1.000 4 2004 2012
dbSNP: rs193919335
rs193919335
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46190473 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2001 2003
dbSNP: rs386834011
rs386834011
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46192528 missense variant C/G snv 4.0E-06 0.700 1.000 3 2004 2013
dbSNP: rs386834018
rs386834018
TSPAN1 ; POMGNT1
3 0.882 0.120 1 46189901 stop gained G/A;T snv 8.0E-06 0.700 1.000 3 2007 2011
dbSNP: rs386834022
rs386834022
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46189477 frameshift variant C/- delins 1.4E-05 0.700 1.000 3 2001 2003
dbSNP: rs751254522
rs751254522
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46193578 frameshift variant -/A delins 2.0E-05 0.700 1.000 3 2003 2013
dbSNP: rs138642840
rs138642840
TSPAN1 ; POMGNT1
4 0.851 0.120 1 46192097 splice donor variant C/A;T snv 6.2E-04 0.700 1.000 2 2001 2015
dbSNP: rs386834015
rs386834015
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46192367 frameshift variant CCCAG/- delins 0.700 1.000 2 2007 2014
dbSNP: rs386834019
rs386834019
TSPAN1 ; POMGNT1
3 0.882 0.120 1 46189870 stop gained C/G;T snv 8.0E-06; 4.0E-06 0.700 1.000 2 2004 2011
dbSNP: rs386834039
rs386834039
TSPAN1 ; POMGNT1
4 0.851 0.120 1 46193874 stop gained G/A snv 7.0E-06 0.700 1.000 2 2006 2012
dbSNP: rs386834040
rs386834040
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46193607 frameshift variant -/C delins 8.0E-06 0.700 1.000 2 2003 2003
dbSNP: rs1048865247
rs1048865247
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46195887 stop gained G/C snv 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
9 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs386834035
rs386834035
TSPAN1 ; POMGNT1
2 0.925 0.120 1 46194843 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1057516318
rs1057516318
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46194272 splice donor variant A/G snv 0.700 0
dbSNP: rs1057516409
rs1057516409
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46192499 splice donor variant CCTACCTGGTCATTCCAG/-;CCTACCTGGTCATTCCAGCCTACCTGGTCATTCCAG delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1057516477
rs1057516477
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46196850 splice acceptor variant C/A snv 1.4E-05 0.700 0
dbSNP: rs1057516478
rs1057516478
POMGNT1
1 1.000 0.120 1 46197759 stop gained CCAG/TCAC mnv 0.700 0
dbSNP: rs1057516536
rs1057516536
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46193389 splice acceptor variant CT/- del 4.1E-06 0.700 0
dbSNP: rs1057516576
rs1057516576
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46192096 splice donor variant ACGT/- del 0.700 0
dbSNP: rs1057516830
rs1057516830
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46193927 splice acceptor variant T/C snv 0.700 0