rs17215500, KCNQ1

N. diseases: 7
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 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.800 1.000 5 2011 2017
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.730 1.000 11 1999 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.720 1.000 8 1999 2015
Romano-Ward Syndrome
CUI: C0035828
Disease: Romano-Ward Syndrome
17 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.700 1.000 9 1999 2015
LONG QT SYNDROME 1, RECESSIVE
CUI: C4017089
Disease: LONG QT SYNDROME 1, RECESSIVE
2 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.700 0
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
11 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.010 1.000 1 2000 2000
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.010 1.000 1 2011 2011