rs587777449, IFIH1

N. diseases: 6
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.
AICARDI-GOUTIERES SYNDROME 7
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
15 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.800 1.000 2 2014 2014
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
19 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 0.700 0