ELOVL5, ELOVL fatty acid elongase 5, 60481

N. diseases: 57; 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: rs587777670
rs587777670
1.000 0.080 6 53270660 stop gained C/A;T snv 4.0E-06
CUI: C4518337
Disease: Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 38
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs587777671
rs587777671
1.000 0.080 6 53291808 missense variant G/C snv
CUI: C4518337
Disease: Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 38
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.710 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
0.700 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
Malignant neoplasm of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
0.700 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2016 2016
dbSNP: rs209489
rs209489
0.790 0.080 6 53312880 intron variant C/A snv 0.92
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
0.700 1.000 1 2016 2016
dbSNP: rs2397142
rs2397142
1.000 0.040 6 53335501 intron variant C/G snv 0.37
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019