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: rs58598099
rs58598099
3 0.882 0.200 16 2116917 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1555452849
rs1555452849
1 1.000 0.120 16 2106172 frameshift variant G/- delins 0.700 0