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: rs121912952
rs121912952
1 1.000 0.120 6 33178143 missense variant G/T snv 9.0E-05 5.6E-05 0.800 1.000 2 2005 2015
dbSNP: rs864309523
rs864309523
1 1.000 0.120 6 33173522 missense variant G/T snv 0.800 1.000 2 2005 2015
dbSNP: rs606231410
rs606231410
2 0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06 0.800 0
dbSNP: rs1562336726
rs1562336726
1 1.000 0.120 6 33173096 frameshift variant G/- delins 0.700 0