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: rs138498280
rs138498280
1 1.000 0.080 10 79349713 missense variant G/C;T snv 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs1428760461
rs1428760461
1 1.000 0.080 10 79349712 frameshift variant G/- delins 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018