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: rs121918219
rs121918219
2 1.000 1 115682372 missense variant G/A snv 2.4E-05 4.2E-05 0.800 1.000 2 2007 2009
dbSNP: rs121918220
rs121918220
1 1.000 1 115683980 missense variant T/C snv 1.2E-05 7.0E-06 0.800 1.000 2 2007 2009
dbSNP: rs761123443
rs761123443
2 1.000 1 115663998 missense variant G/A snv 2.4E-05 6.3E-05 0.800 1.000 2 2007 2009
dbSNP: rs146695372
rs146695372
1 1.000 1 115663704 missense variant C/T snv 6.0E-05 9.8E-05 0.700 1.000 2 2007 2009
dbSNP: rs775571796
rs775571796
1 1.000 1 115685423 missense variant G/T snv 1.2E-05 0.700 0