VIM, vimentin, 7431

N. diseases: 644; N. variants: 6
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: rs121917775
rs121917775
1.000 10 17229873 missense variant G/A snv 1.4E-05
CUI: C3805411
Disease: CATARACT 30
CATARACT 30
0.800 1.000 3 2009 2017
dbSNP: rs3758413
rs3758413
10 17226840 intron variant T/C snv 0.37
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs3758413
rs3758413
10 17226840 intron variant T/C snv 0.37
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs864309690
rs864309690
0.925 0.200 10 17229436 frameshift variant C/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1085307141
rs1085307141
1.000 10 17230709 missense variant A/G snv 4.0E-06
CUI: C3805411
Disease: CATARACT 30
CATARACT 30
0.700 0
dbSNP: rs864309690
rs864309690
0.925 0.200 10 17229436 frameshift variant C/- delins
CUI: C3805411
Disease: CATARACT 30
CATARACT 30
0.700 0
dbSNP: rs1305547785
rs1305547785
1.000 0.040 10 17229759 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs778098458
rs778098458
0.925 0.080 10 17229556 missense variant G/A;C snv 1.3E-05
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs778098458
rs778098458
0.925 0.080 10 17229556 missense variant G/A;C snv 1.3E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011