STXBP4, syntaxin binding protein 4, 252983

N. diseases: 18; N. variants: 10
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: rs6504950
rs6504950 		0.807 0.120 17 54979110 intron variant G/A snv 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.770 0.900 10 2009 2017
dbSNP: rs6504950
rs6504950 		0.807 0.120 17 54979110 intron variant G/A snv 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.770 0.889 9 2009 2017
dbSNP: rs2787486
rs2787486 		0.925 0.080 17 55132413 intron variant A/C snv 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2016 2017
dbSNP: rs16955527
rs16955527 		0.925 0.040 17 55051549 intron variant A/G snv 4.9E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16955527
rs16955527 		0.925 0.040 17 55051549 intron variant A/G snv 4.9E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs17817628
rs17817628 		17 55097366 intron variant A/C;G snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2062346
rs2062346 		17 55111995 intron variant A/C snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs244293
rs244293 		17 55153361 intron variant A/G;T snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs7211469
rs7211469 		17 55026237 intron variant A/G snv 0.20
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs72834846
rs72834846 		17 55165030 3 prime UTR variant A/T snv 0.15
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1156287
rs1156287 		0.925 0.080 17 54999438 missense variant G/A snv 0.78 0.79
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1156287
rs1156287 		0.925 0.080 17 54999438 missense variant G/A snv 0.78 0.79
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2787486
rs2787486 		0.925 0.080 17 55132413 intron variant A/C snv 0.33
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2787486
rs2787486 		0.925 0.080 17 55132413 intron variant A/C snv 0.33
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2787487
rs2787487 		0.925 0.080 17 55132021 intron variant G/C snv 0.64
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2787487
rs2787487 		0.925 0.080 17 55132021 intron variant G/C snv 0.64
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6504950
rs6504950 		0.807 0.120 17 54979110 intron variant G/A snv 0.29
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6504950
rs6504950 		0.807 0.120 17 54979110 intron variant G/A snv 0.29
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6504950
rs6504950 		0.807 0.120 17 54979110 intron variant G/A snv 0.29
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6504950
rs6504950 		0.807 0.120 17 54979110 intron variant G/A snv 0.29
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6504950
rs6504950 		0.807 0.120 17 54979110 intron variant G/A snv 0.29
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012