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: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2002 2002
dbSNP: rs111966833
rs111966833
8 0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03 0.010 1.000 1 2002 2002
dbSNP: rs777418530
rs777418530
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002