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: rs121908494
rs121908494
2 1.000 11 20628056 missense variant A/G snv 1.2E-05 3.5E-05 0.800 1.000 2 2006 2019
dbSNP: rs121908496
rs121908496
2 1.000 11 20607583 missense variant C/G snv 0.800 1.000 2 2006 2019
dbSNP: rs121908497
rs121908497
2 1.000 11 20630717 missense variant A/G snv 4.0E-06 0.800 1.000 2 2006 2019
dbSNP: rs121908498
rs121908498
2 1.000 11 20626721 missense variant C/A;T snv 8.0E-06; 3.6E-05 0.800 1.000 2 2006 2019
dbSNP: rs281864926
rs281864926
2 1.000 11 20630721 missense variant T/G snv 4.0E-06 0.800 1.000 2 2006 2019
dbSNP: rs376783257
rs376783257
1 1.000 11 20604316 stop gained C/G;T snv 4.0E-06; 2.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs121908493
rs121908493
2 1.000 11 20617755 stop gained C/A snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs121908495
rs121908495
2 1.000 11 20638477 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs281864924
rs281864924
2 1.000 11 20626741 frameshift variant G/TT delins 0.700 0
dbSNP: rs745539706
rs745539706
2 1.000 11 20626733 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs772652517
rs772652517
1 1.000 11 20636322 missense variant T/C snv 2.0E-05 7.0E-06 0.700 0