rs730882243, KCTD3

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.
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 0.700 0