CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
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: rs786205140
rs786205140 		1.000 5 96737877 frameshift variant -/A delins
CUI: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		0.700 0
dbSNP: rs27852
rs27852 		1.000 0.040 5 96710335 intron variant A/C;G snv
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs27038
rs27038 		1.000 0.040 5 96777250 intron variant A/G snv 0.82
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2011 2019
dbSNP: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2018
dbSNP: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 2 2010 2015
dbSNP: rs3822683
rs3822683 		5 96745179 intron variant A/G snv 0.27
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs13167972
rs13167972 		1.000 0.040 5 96761124 3 prime UTR variant A/G snv 0.35
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1559085
rs1559085 		0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1559085
rs1559085 		0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs774652019
rs774652019 		5 96765222 splice acceptor variant A/G;T snv 8.1E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs786204842
rs786204842 		1.000 5 96729723 stop gained A/T snv
CUI: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		0.700 0
dbSNP: rs10062657
rs10062657 		5 96532204 intron variant C/A snv 0.78
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs776045205
rs776045205 		5 96747369 missense variant C/A;T snv 6.4E-05; 2.4E-04
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7711564
rs7711564 		1.000 0.040 5 96760515 intron variant C/G snv 0.29
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs752410089
rs752410089 		5 96741548 missense variant C/G;T snv 4.0E-06 7.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11951673
rs11951673 		5 96525308 non coding transcript exon variant C/T snv 0.39
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012
dbSNP: rs11951673
rs11951673 		5 96525308 non coding transcript exon variant C/T snv 0.39
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs11951673
rs11951673 		5 96525308 non coding transcript exon variant C/T snv 0.39
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1235134025
rs1235134025 		5 96740769 missense variant C/T snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6882366
rs6882366 		5 96528989 intron variant C/T snv 0.39
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012
dbSNP: rs6882366
rs6882366 		5 96528989 intron variant C/T snv 0.39
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs780325052
rs780325052 		5 96746417 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs786205141
rs786205141 		1.000 5 96762313 frameshift variant G/- del
CUI: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		0.710 1.000 1 2015 2015