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: rs121908093
rs121908093
3 0.882 0.160 1 40285988 missense variant T/C snv 0.800 1.000 4 2003 2010
dbSNP: rs121908095
rs121908095
3 0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05 0.800 1.000 4 2003 2010
dbSNP: rs281875371
rs281875371
2 0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05 0.700 1.000 4 2003 2010
dbSNP: rs121908094
rs121908094
3 0.925 0.160 1 40258392 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs137854889
rs137854889
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs281875376
rs281875376
1 1.000 0.160 1 40292590 stop gained G/A snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs267607563
rs267607563
1 1.000 0.160 1 156136252 missense variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs397517893
rs397517893
1 1.000 0.160 1 156136982 missense variant A/G snv 0.010 1.000 1 2016 2016