rs749205120, KCNQ3

N. diseases: 3
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.080 8 132180245 missense variant C/A;T snv 4.0E-06 0.700 1.000 13 1998 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.080 8 132180245 missense variant C/A;T snv 4.0E-06 0.700 1.000 2 2012 2013
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
20 1.000 0.080 8 132180245 missense variant C/A;T snv 4.0E-06 0.700 0