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: rs137853342
rs137853342
1 1.000 16 23215237 stop gained G/A snv 0.700 0
dbSNP: rs1567270184
rs1567270184
1 1.000 16 23215268 frameshift variant AGCTC/- del 0.700 0