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: rs121908590
rs121908590
1 1.000 0.080 12 5045270 stop gained G/A;T snv 0.700 0
dbSNP: rs121908592
rs121908592
1 1.000 0.080 12 5045874 missense variant C/T snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs121908593
rs121908593
2 0.925 0.080 12 5045975 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587777336
rs587777336
1 1.000 0.080 12 5044290 missense variant A/G snv 1.4E-05 0.700 0