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: rs748112308
rs748112308
1 18 53486808 missense variant G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs797044556
rs797044556
2 1.000 0.040 18 53486893 frameshift variant TC/- delins 0.700 0