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: rs267607220
rs267607220
1 1.000 0.080 11 46893085 missense variant C/T snv 0.800 1.000 1 2010 2010
dbSNP: rs267607221
rs267607221
1 1.000 0.080 11 46899455 missense variant C/T snv 7.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs267607222
rs267607222
1 1.000 0.080 11 46899884 missense variant C/T snv 0.800 1.000 1 2010 2010
dbSNP: rs267607223
rs267607223
1 1.000 0.080 11 46894748 missense variant T/C;G snv 4.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs267607224
rs267607224
1 1.000 0.080 11 46894784 missense variant C/T snv 0.800 1.000 1 2010 2010
dbSNP: rs780336679
rs780336679
2 0.925 0.080 11 46900261 splice donor variant C/T snv 2.4E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs1565785959
rs1565785959
3 0.882 0.080 11 46879264 stop gained C/A snv 0.700 0
dbSNP: rs1565801326
rs1565801326
1 1.000 0.080 11 46900387 intron variant C/T snv 0.700 0
dbSNP: rs762425885
rs762425885
1 1.000 0.080 11 46899386 splice donor variant C/T snv 4.0E-06 0.700 0