rs104894578, KCNJ2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
38 0.807 0.280 17 70175691 missense variant C/T snv 0.800 1.000 16 2001 2014
Short QT Syndrome 3
CUI: C1865018
Disease: Short QT Syndrome 3
9 0.807 0.280 17 70175691 missense variant C/T snv 0.700 1.000 10 2001 2014
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.807 0.280 17 70175691 missense variant C/T snv 0.010 1.000 1 2006 2006
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
7 0.807 0.280 17 70175691 missense variant C/T snv 0.010 1.000 1 2006 2006
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.807 0.280 17 70175691 missense variant C/T snv 0.010 1.000 1 2006 2006
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.807 0.280 17 70175691 missense variant C/T snv 0.010 1.000 1 2006 2006