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.
Microphthalmos co-occurrent with congenital ocular coloboma
CUI: C4255043
Disease: Microphthalmos co-occurrent with congenital ocular coloboma
6 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.710 1.000 1 2013 2013
Temtamy syndrome
CUI: C1857512
Disease: Temtamy syndrome
5 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.700 1.000 4 2011 2018
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.700 0
Microphthalmia and mental deficiency
CUI: C2931500
Disease: Microphthalmia and mental deficiency
6 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.010 1.000 1 2013 2013