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: rs121917817
rs121917817
1 1.000 0.160 5 177607445 missense variant C/A snv 1.6E-05 0.800 1.000 1 1999 1999
dbSNP: rs121917818
rs121917818
1 1.000 0.160 5 177607505 missense variant T/C snv 0.800 1.000 1 1999 1999
dbSNP: rs187063864
rs187063864
1 1.000 0.160 5 177607309 missense variant C/T snv 3.3E-05 4.9E-05 0.700 0
dbSNP: rs28937869
rs28937869
4 0.851 0.200 5 177608994 missense variant C/T snv 4.8E-05 9.1E-05 0.700 0
dbSNP: rs375845310
rs375845310
1 1.000 0.160 5 177604250 missense variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs753594601
rs753594601
1 1.000 0.160 5 177608540 missense variant G/A snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs879255634
rs879255634
1 1.000 0.160 5 177604401 frameshift variant CCC/-;CC;CCCC delins 0.700 0