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: rs387906402
rs387906402
1.000 0.120 16 23380725 missense variant C/G;T snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.820 1.000 8 1995 2017
dbSNP: rs137852707
rs137852707
1.000 0.120 16 23380736 missense variant T/C snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 1995 2005
dbSNP: rs137852708
rs137852708
1.000 0.120 16 23380727 missense variant C/T snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 1995 2005
dbSNP: rs137852705
rs137852705
1.000 0.120 16 23380731 missense variant C/G;T snv
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 7 1995 2008
dbSNP: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs149868979
rs149868979
1.000 0.120 16 23380566 missense variant G/A snv 1.5E-04 1.5E-04
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011