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: rs387906702
rs387906702
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
dbSNP: rs727503773
rs727503773
7 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0