Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1183385193
rs1183385193
SCNN1G
1.000 0.080 16 23186443 missense variant G/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs137853342
rs137853342
SCNN1G
1.000 16 23215237 stop gained G/A snv
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2 		0.700 0
dbSNP: rs1567262640
rs1567262640
SCNN1G
1.000 0.120 16 23189370 splice acceptor variant G/A snv
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.700 0
dbSNP: rs1567270184
rs1567270184
SCNN1G
1.000 16 23215268 frameshift variant AGCTC/- del
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2 		0.700 0