Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853342
rs137853342
1.000 16 23215237 stop gained G/A snv
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2
0.700 0
dbSNP: rs1567270184
rs1567270184
1.000 16 23215268 frameshift variant AGCTC/- del
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2
0.700 0