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: rs121912492
rs121912492
LAMB2
2 0.925 0.240 3 49130815 missense variant A/G snv 0.800 1.000 2 2010 2011
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 2010 2011
dbSNP: rs267607208
rs267607208
LAMB2
2 0.925 0.240 3 49123179 missense variant G/A snv 4.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs387906644
rs387906644
LAMB2
1 1.000 3 49132135 missense variant T/C snv 4.0E-06 7.0E-06 0.800 1.000 2 2010 2011
dbSNP: rs779317615
rs779317615
LAMB2
1 1.000 3 49132490 splice donor variant C/G;T snv 3.2E-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: rs121912491
rs121912491
LAMB2
4 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1553776921
rs1553776921
LAMB2 ; USP19
2 0.925 0.240 3 49122170 frameshift variant -/C delins 0.700 0
dbSNP: rs1560075787
rs1560075787
LAMB2
1 1.000 3 49129644 frameshift variant C/- del 0.700 0
dbSNP: rs769399002
rs769399002
LAMB2 ; USP19
1 1.000 3 49122063 frameshift variant G/- del 1.4E-05 0.700 0