rs1555642784, CNTNAP1

N. diseases: 5
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.
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
7 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0