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: rs1065407
rs1065407 		1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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: 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: rs72772090
rs72772090 		1.000 0.120 5 96700607 intron variant G/A;C snv
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs72772090
rs72772090 		1.000 0.120 5 96700607 intron variant G/A;C snv
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2017 2017
dbSNP: rs72772090
rs72772090 		1.000 0.120 5 96700607 intron variant G/A;C snv
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs750877321
rs750877321 		5 96741291 missense variant T/C snv 1.2E-05
CUI: C0234233
Disease: Sore to touch
Sore to touch 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2015 2015
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: 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: rs779255105
rs779255105 		5 96762316 missense variant G/A snv 4.0E-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: rs781198499
rs781198499 		1.000 0.040 5 96765321 missense variant T/A;C snv 7.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2013 2013
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
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: 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: rs1277121650
rs1277121650 		5 96746364 missense variant T/C snv 7.0E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch 		Pathological Conditions, Signs and Symptoms; Mental Disorders 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: rs1355799280
rs1355799280 		5 96742749 missense variant T/C snv 7.0E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs759344521
rs759344521 		1.000 0.080 5 96737892 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: rs27582
rs27582 		1.000 0.040 5 96762510 3 prime UTR variant G/A snv 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2014 2016