rs886041262, KCNQ2

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.
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 1.000 5 2013 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 1.000 2 2013 2014
Abnormality of the periventricular white matter
CUI: C2673431
Disease: Abnormality of the periventricular white matter
7 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 0
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 0
Dysgraphia
CUI: C0234144
Disease: Dysgraphia
2 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 0