IFI27, interferon alpha inducible protein 27, 3429

N. diseases: 332; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs544899118
rs544899118
0.925 0.160 14 94115873 missense variant T/C snv 4.4E-06 7.0E-06
Squamous cell carcinoma of the head and neck
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs544899118
rs544899118
0.925 0.160 14 94115873 missense variant T/C snv 4.4E-06 7.0E-06
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs765318806
rs765318806
1.000 0.080 14 94116445 missense variant C/G snv 4.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs765502229
rs765502229
1.000 0.120 14 94116511 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs886547387
rs886547387
14 94115838 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2001 2001