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.
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.925 0.040 12 13608611 missense variant C/A;T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.040 12 13608611 missense variant C/A;T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
12 0.925 0.040 12 13608611 missense variant C/A;T snv 0.700 0
Long fingers
CUI: C1858091
Disease: Long fingers
6 0.925 0.040 12 13608611 missense variant C/A;T snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.925 0.040 12 13608611 missense variant C/A;T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.925 0.040 12 13608611 missense variant C/A;T snv 0.700 0