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: rs397515352
rs397515352
3 0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs769701646
rs769701646
1 15 68211754 missense variant C/T snv 4.0E-05 7.0E-06 0.700 0