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: rs145999922
rs145999922
4 0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs775835429
rs775835429
4 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 1 2016 2016