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.
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
Echogenic kidneys
CUI: C3549567
Disease: Echogenic kidneys
2 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
Keratosis Follicularis
CUI: C0022595
Disease: Keratosis Follicularis
21 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
MOHR-TRANEBJAERG SYNDROME
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
19 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0