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: rs74315342
rs74315342
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.700 0
dbSNP: rs749740335
rs749740335
3 0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05 0.700 0