rs869312662, ARX

N. diseases: 2
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.
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
8 1.000 0.040 X 25012988 frameshift variant GTGAAC/TGGTACA delins 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
30 1.000 0.040 X 25012988 frameshift variant GTGAAC/TGGTACA delins 0.700 0