rs730882223, TSEN15

N. diseases: 4
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.
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
3 0.851 0.120 1 184054736 missense variant T/G snv 0.800 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0
Primary microcephaly
CUI: C0431350
Disease: Primary microcephaly
9 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0