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: 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: 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: rs386834015
rs386834015
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46192367 frameshift variant CCCAG/- delins 0.700 1.000 2 2007 2014
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: 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: rs1057516318
rs1057516318
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46194272 splice donor variant A/G snv 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: 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
dbSNP: rs1057516871
rs1057516871
POMGNT1
1 1.000 0.120 1 46197086 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057516903
rs1057516903
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46189944 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057516955
rs1057516955
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46193603 frameshift variant A/- del 0.700 0
dbSNP: rs1057516986
rs1057516986
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46189941 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs1057517153
rs1057517153
POMGNT1
1 1.000 0.120 1 46197019 frameshift variant -/T ins 0.700 0
dbSNP: rs1057517247
rs1057517247
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46194278 frameshift variant T/- del 0.700 0
dbSNP: rs1057517340
rs1057517340
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46189569 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517369
rs1057517369
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46193213 frameshift variant G/- del 0.700 0
dbSNP: rs1057517422
rs1057517422
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46190762 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517449
rs1057517449
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46196730 splice donor variant C/T snv 0.700 0
dbSNP: rs1268759044
rs1268759044
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46190471 splice donor variant A/C snv 0.700 0
dbSNP: rs1457667479
rs1457667479
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46189568 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1553162601
rs1553162601
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46189348 frameshift variant C/- del 0.700 0
dbSNP: rs1553162663
rs1553162663
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46189501 stop gained T/A snv 0.700 0
dbSNP: rs1553162872
rs1553162872
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46190718 splice donor variant A/G snv 0.700 0