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: rs121918137
rs121918137
1 1.000 0.120 6 166931061 missense variant A/G snv 0.800 1.000 2 2009 2011
dbSNP: rs763295910
rs763295910
1 1.000 0.120 6 166929648 frameshift variant -/C delins 2.8E-05 3.5E-05 0.700 0