CLVS1, clavesin 1, 157807

N. diseases: 12; N. variants: 9
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: rs12681792
rs12681792 		8 61141904 intron variant C/A snv 0.23
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs12681792
rs12681792 		8 61141904 intron variant C/A snv 0.23
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs13279512
rs13279512 		8 61045943 intergenic variant G/A snv 0.24
CUI: C0027412
Disease: Opioid-Related Disorders
Opioid-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs142143628
rs142143628 		8 60967385 intron variant C/T snv 2.2E-03
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs143346730
rs143346730 		8 61056966 upstream gene variant A/G snv 4.7E-03
CUI: C0337446
Disease: Tyrosine measurement
Tyrosine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2931353
rs2931353 		8 61236323 intron variant A/G;T snv
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4738873
rs4738873 		8 61173617 intron variant A/G snv 0.77
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs6471932
rs6471932 		8 61166345 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs74382792
rs74382792 		8 61444141 intron variant A/G snv 9.4E-03
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		0.700 1.000 1 2019 2019
dbSNP: rs7830371
rs7830371 		0.851 0.080 8 61143108 intron variant G/T snv 0.46
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs7830371
rs7830371 		0.851 0.080 8 61143108 intron variant G/T snv 0.46
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs7830371
rs7830371 		0.851 0.080 8 61143108 intron variant G/T snv 0.46
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs7830371
rs7830371 		0.851 0.080 8 61143108 intron variant G/T snv 0.46
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2014 2014