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: rs318240762
rs318240762
2 0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06 0.800 1.000 3 2012 2015
dbSNP: rs398122891
rs398122891
1 1.000 8 22177868 missense variant C/G snv 0.800 1.000 3 2012 2015
dbSNP: rs786205219
rs786205219
1 1.000 8 22177929 missense variant A/G snv 0.800 0
dbSNP: rs786205217
rs786205217
1 1.000 8 22201444 3 prime UTR variant T/C snv 7.0E-06 0.700 0
dbSNP: rs786205218
rs786205218
1 1.000 8 22197420 missense variant G/C snv 0.700 0
dbSNP: rs786205220
rs786205220
1 1.000 8 22194174 missense variant G/T snv 0.700 0