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: rs145457535
rs145457535
6 0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 0.700 0
dbSNP: rs587776910
rs587776910
2 0.925 0.160 17 44902466 frameshift variant -/G delins 0.700 0