GHRL, ghrelin and obestatin prepropeptide, 51738

N. diseases: 183; N. variants: 11
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: rs34911341
rs34911341 		0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2002 2002
dbSNP: rs4684677
rs4684677 		0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 < 0.001 1 2009 2009
dbSNP: rs3732950
rs3732950 		3 10293297 non coding transcript exon variant G/A snv 4.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34911341
rs34911341 		0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C4016925
Disease: OBESITY, AGE AT ONSET OF
OBESITY, AGE AT ONSET OF 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.060 0.500 6 2003 2014
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.050 1.000 5 2005 2019
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 < 0.001 2 2006 2008
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2014
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2005 2008
dbSNP: rs1629816
rs1629816 		0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1629816
rs1629816 		0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C0038362
Disease: Stomatitis
Stomatitis 		Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1629816
rs1629816 		0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1629816
rs1629816 		0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2075356
rs2075356 		0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2075356
rs2075356 		0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2075356
rs2075356 		0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2075356
rs2075356 		0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2075356
rs2075356 		0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs26311
rs26311 		1.000 0.080 3 10291242 5 prime UTR variant C/G snv 0.16
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs26312
rs26312 		0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs26312
rs26312 		0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013