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: rs137853291
rs137853291
4 0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05 0.700 1.000 1 1999 1999
dbSNP: rs1567124404
rs1567124404
2 0.925 0.080 15 89218627 frameshift variant T/- delins 0.700 0
dbSNP: rs28933990
rs28933990
4 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.700 0