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: rs121912998
rs121912998
3 1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03 0.700 0
dbSNP: rs1554108172
rs1554108172
DSP
2 0.925 0.080 6 7579983 stop gained G/T snv 0.700 0