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: rs121912488
rs121912488
LAMB2
1 1.000 0.240 3 49131129 missense variant G/A snv 1.2E-05 0.810 1.000 2 2004 2006
dbSNP: rs121912491
rs121912491
LAMB2
4 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.700 1.000 2 2004 2006
dbSNP: rs121912492
rs121912492
LAMB2
2 0.925 0.240 3 49130815 missense variant A/G snv 0.700 1.000 2 2004 2006
dbSNP: rs267607207
rs267607207
LAMB2
2 0.925 0.240 3 49123216 missense variant G/T snv 2.5E-04 2.7E-04 0.700 1.000 2 2004 2006
dbSNP: rs267607208
rs267607208
LAMB2
2 0.925 0.240 3 49123179 missense variant G/A snv 4.0E-06 0.700 1.000 2 2004 2006
dbSNP: rs888830612
rs888830612
LAMB2
1 1.000 0.240 3 49124700 splice donor variant C/A;T snv 8.0E-06 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs121912489
rs121912489
LAMB2
2 0.925 0.240 3 49126449 stop gained G/C snv 0.700 0
dbSNP: rs121912490
rs121912490
LAMB2
1 1.000 0.240 3 49130334 stop gained A/T snv 0.700 0
dbSNP: rs1553776921
rs1553776921
LAMB2 ; USP19
2 0.925 0.240 3 49122170 frameshift variant -/C delins 0.700 0
dbSNP: rs1560063136
rs1560063136
LAMB2 ; USP19
1 1.000 0.240 3 49121434 frameshift variant -/T delins 0.700 0
dbSNP: rs1560072794
rs1560072794
LAMB2
1 1.000 0.240 3 49124795 frameshift variant C/- delins 0.700 0
dbSNP: rs730880125
rs730880125
LAMB2
1 1.000 0.240 3 49124920 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs746230397
rs746230397
LAMB2
1 1.000 0.240 3 49132500 missense variant A/C;G snv 8.0E-06; 4.0E-06 0.010 1.000 1 2018 2018