rs782609482, SURF1

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.
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0