rs730882224, PNKP

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 atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 0.700 0
Primary microcephaly
CUI: C0431350
Disease: Primary microcephaly
9 0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 0.700 0