KIFAP3, kinesin associated protein 3, 22920

N. diseases: 19; N. variants: 5
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: rs1541160
rs1541160 		0.882 0.080 1 170026661 intron variant C/A;T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.830 1.000 4 2009 2014
dbSNP: rs115476742
rs115476742 		1 170082700 intron variant T/C snv 7.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs61806081
rs61806081 		1.000 1 169931786 intron variant G/A snv 1.1E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs688565
rs688565 		1 169972267 intron variant T/A;C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1541160
rs1541160 		0.882 0.080 1 170026661 intron variant C/A;T snv
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2011 2012
dbSNP: rs1541160
rs1541160 		0.882 0.080 1 170026661 intron variant C/A;T snv
CUI: C0030442
Disease: Progressive bulbar palsy
Progressive bulbar palsy 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs544453380
rs544453380 		1.000 0.080 1 170046818 synonymous variant T/C snv 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009