SEM1, SEM1 26S proteasome complex subunit, 7979

N. diseases: 61; N. variants: 19
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: rs6465511
rs6465511 		7 96504803 intron variant C/A;G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 2 2009 2018
dbSNP: rs4729260
rs4729260 		7 96488606 intron variant G/A;C snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 1 2009 2009
dbSNP: rs7781370
rs7781370 		7 96504219 intron variant T/C snv 0.72
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 1 2009 2009
dbSNP: rs4727338
rs4727338 		7 96491363 intron variant G/C;T snv
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 2 2012 2014
dbSNP: rs10085588
rs10085588 		1.000 0.080 7 96508362 intron variant A/G snv 0.72
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs10429035
rs10429035 		7 96490169 intron variant G/A snv 0.39
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2014 2014
dbSNP: rs10429035
rs10429035 		7 96490169 intron variant G/A snv 0.39
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2014 2014
dbSNP: rs10464592
rs10464592 		7 96601374 intron variant G/A snv 0.34
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs10808100
rs10808100 		7 96501241 intron variant C/A;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs12704868
rs12704868 		7 96632160 intron variant T/A snv 0.32
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs150691387
rs150691387 		7 96538498 intron variant A/G snv 7.8E-03
CUI: C0202455
Disease: Platinum measurement
Platinum measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4342521
rs4342521 		7 96506693 missense variant T/G snv 0.72
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs4370463
rs4370463 		7 96505089 intron variant G/A;C snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs4427101
rs4427101 		7 96512389 intron variant T/C snv 0.72
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs4448201
rs4448201 		7 96525600 intron variant G/A;C;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs4727338
rs4727338 		7 96491363 intron variant G/C;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs6465508
rs6465508 		7 96498043 intron variant G/A;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs6465510
rs6465510 		7 96504559 intron variant C/A snv 0.61
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs6965122
rs6965122 		7 96504007 intron variant A/G snv 0.24
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs6971293
rs6971293 		7 96519265 intron variant T/A;C snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs10085588
rs10085588 		1.000 0.080 7 96508362 intron variant A/G snv 0.72
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10085588
rs10085588 		1.000 0.080 7 96508362 intron variant A/G snv 0.72
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2019 2019
dbSNP: rs1416033282
rs1416033282 		1.000 0.080 7 96486287 missense variant C/T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4342521
rs4342521 		7 96506693 missense variant T/G snv 0.72
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2019 2019