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.
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
248 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.800 4 1998 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
236 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.720 1.000 7 2000 2017
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
223 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.700 15 1999 2012
LONG QT SYNDROME 2/5, DIGENIC (disorder)
246 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.700 4 1998 2010
LONG QT SYNDROME 1/2, DIGENIC (disorder)
418 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.700 4 1998 2010
LONG QT SYNDROME 2/3, DIGENIC
CUI: C3276240
Disease: LONG QT SYNDROME 2/3, DIGENIC
367 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.700 4 1998 2010
LONG QT SYNDROME 2/9, DIGENIC
CUI: C3279093
Disease: LONG QT SYNDROME 2/9, DIGENIC
226 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.700 4 1998 2010
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
227 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.700 4 1998 2010
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
13 0.769 0.179 7 150951679 missense variant C/A,G,T snp 0.010 1.000 1 2000 2000