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: rs193919336
rs193919336
TSPAN1 ; POMGNT1
3 0.882 0.160 1 46193873 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.800 1.000 9 2001 2010
dbSNP: rs193919335
rs193919335
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46190473 missense variant C/A;T snv 4.0E-06 0.800 1.000 8 2001 2008
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
5 0.827 0.160 1 46192397 missense variant G/A snv 3.5E-05 0.800 1.000 8 2001 2008
dbSNP: rs28942068
rs28942068
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46192159 missense variant G/C snv 0.800 1.000 8 2001 2008
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 9 2001 2010
dbSNP: rs386834010
rs386834010
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46194359 missense variant C/G;T snv 4.0E-05 4.2E-05 0.700 1.000 9 2001 2010
dbSNP: rs386834011
rs386834011
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46192528 missense variant C/G snv 4.0E-06 0.700 1.000 9 2001 2010
dbSNP: rs386834030
rs386834030
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46195819 missense variant T/C;G snv 4.5E-06 0.700 1.000 9 2001 2010
dbSNP: rs386834032
rs386834032
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46194902 missense variant G/C snv 0.700 1.000 9 2001 2010
dbSNP: rs386834036
rs386834036
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46194637 missense variant C/T snv 0.700 1.000 9 2001 2010
dbSNP: rs386834037
rs386834037
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46194347 missense variant C/T snv 0.700 1.000 9 2001 2010
dbSNP: rs762972459
rs762972459
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46193315 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 8 2001 2008
dbSNP: rs193919337
rs193919337
POMGNT1
2 0.925 0.120 1 46197018 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs267606961
rs267606961
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46192212 stop gained C/T snv 0.700 0
dbSNP: rs386834017
rs386834017
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46189920 frameshift variant G/- del 0.700 0
dbSNP: rs386834022
rs386834022
TSPAN1 ; POMGNT1
2 0.925 0.160 1 46189477 frameshift variant C/- delins 1.4E-05 0.700 0
dbSNP: rs587777821
rs587777821
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46192307 splice donor variant C/A;G;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs587777822
rs587777822
TSPAN1 ; POMGNT1
1 1.000 0.120 1 46189521 frameshift variant A/- del 0.700 0