rs72546668, SSUH2;CAV3

N. diseases: 3
Source: CURATED ×
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 9 (disorder)
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
6 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.800 0
LONG QT SYNDROME 2/9, DIGENIC
CUI: C3279093
Disease: LONG QT SYNDROME 2/9, DIGENIC
2 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
13 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0