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: rs201053854
rs201053854
2 0.925 0.200 19 36058791 missense variant G/T snv 6.6E-04 1.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs387907082
rs387907082
2 0.925 0.120 19 36081512 missense variant G/A snv 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs387907084
rs387907084
2 0.925 0.120 19 36058795 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs774912957
rs774912957
2 0.925 0.200 19 36054999 missense variant G/C;T snv 7.3E-05 0.010 1.000 1 2016 2016