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: rs121917735
rs121917735
3 0.882 0.080 16 79599040 missense variant C/G;T snv 4.1E-06 0.800 1.000 3 2002 2014
dbSNP: rs121917736
rs121917736
4 0.851 0.200 16 79599013 missense variant T/C snv 0.800 1.000 3 2002 2014
dbSNP: rs1481963503
rs1481963503
2 0.925 0.240 16 79598998 missense variant G/A snv 0.700 0
dbSNP: rs786205221
rs786205221
4 0.851 0.200 16 79599008 missense variant G/T snv 0.700 0
dbSNP: rs786205222
rs786205222
1 1.000 16 79598995 missense variant T/G snv 0.700 0