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: rs121908407
rs121908407 		1.000 0.040 5 14769145 missense variant A/G snv
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		Musculoskeletal Diseases 0.810 1.000 4 2002 2009
dbSNP: rs121908409
rs121908409 		1.000 0.040 5 14871434 missense variant G/A snv
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		Musculoskeletal Diseases 0.800 1.000 3 2002 2003
dbSNP: rs121908410
rs121908410 		1.000 0.040 5 14871435 missense variant G/T snv
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		Musculoskeletal Diseases 0.800 1.000 3 2002 2003
dbSNP: rs28939080
rs28939080 		0.925 0.080 5 14713644 missense variant C/T snv
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 2 2001 2001
dbSNP: rs146886108
rs146886108 		1.000 0.080 5 14751196 missense variant C/T snv 3.1E-03 3.3E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2018 2018
dbSNP: rs1061813
rs1061813 		1.000 0.080 5 14847222 intron variant G/A snv 0.55
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs153920
rs153920 		5 14748447 intron variant T/C snv 0.37
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2921604
rs2921604 		5 14867839 intron variant T/C snv 0.46
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2921604
rs2921604 		5 14867839 intron variant T/C snv 0.46
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs31918
rs31918 		1.000 0.040 5 14820818 intron variant C/T snv 0.29
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs31918
rs31918 		1.000 0.040 5 14820818 intron variant C/T snv 0.29
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs368503
rs368503 		5 14820308 intron variant A/G snv 0.29
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs61394862
rs61394862 		1.000 0.040 5 14850985 intron variant C/G;T snv
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6885132
rs6885132 		1.000 0.080 5 14767983 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs76325372
rs76325372 		1.000 0.040 5 14837223 intron variant A/C;T snv
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121908405
rs121908405 		1.000 0.080 5 14716716 inframe deletion AAG/- delins
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121908406
rs121908406 		1.000 0.080 5 14716721 inframe deletion GAG/- delins
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121908408
rs121908408 		1.000 5 14711206 inframe deletion CTC/- delins
CUI: C4016917
Disease: CHONDROCALCINOSIS 2, SPORADIC
CHONDROCALCINOSIS 2, SPORADIC 		0.700 0
dbSNP: rs267606656
rs267606656 		1.000 0.080 5 14716832 missense variant A/G snv
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs267606657
rs267606657 		1.000 0.080 5 14741837 missense variant A/C snv
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs267606658
rs267606658 		1.000 0.080 5 14713637 missense variant A/G snv
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs28939080
rs28939080 		0.925 0.080 5 14713644 missense variant C/T snv
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		Musculoskeletal Diseases 0.700 0
dbSNP: rs26307
rs26307 		1.000 0.040 5 14705556 3 prime UTR variant T/C snv 0.72
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2005 2013
dbSNP: rs27356
rs27356 		1.000 0.040 5 14722332 intron variant C/G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2005 2013
dbSNP: rs25957
rs25957 		1.000 0.040 5 14783123 intron variant C/G snv 0.77
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2005 2005