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: 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: rs27037
rs27037
1.000 0.040 5 96758990 intron variant T/G snv 0.72
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.760 1.000 7 2010 2018
dbSNP: rs786205141
rs786205141
1.000 5 96762313 frameshift variant G/- del
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
0.710 1.000 1 2015 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: 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: 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: rs27033
rs27033
5 96771195 intron variant T/A snv 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
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: rs72772090
rs72772090
1.000 0.120 5 96700607 intron variant G/A;C snv
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
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
Precursor Cell Lymphoblastic Leukemia Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs786204842
rs786204842
1.000 5 96729723 stop gained A/T snv
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
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
0.700 0
dbSNP: rs27980
rs27980
1.000 0.040 5 96762191 3 prime UTR variant T/G snv 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.030 0.667 3 2016 2018
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: 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
dbSNP: rs4434401
rs4434401
0.925 0.040 5 96703321 intron variant T/C snv 0.45
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.020 1.000 2 2013 2018
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: 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: 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