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: rs796051870
rs796051870
4 0.851 0.200 5 179833783 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2016
dbSNP: rs1555767678
rs1555767678
1 1.000 18 62325400 inframe insertion -/CTCTGCGCGCTGCTC delins 0.700 0
dbSNP: rs796051862
rs796051862
1 1.000 18 62325386 inframe insertion -/GCTGCTGCTGCTCTGCGCGCTGCTCGC delins 0.700 0
dbSNP: rs886037749
rs886037749
2 0.925 0.040 18 62325387 inframe insertion -/GCTGCTCTGCGCGCTGCT delins 0.700 0