YAP1, Yes associated protein 1, 10413

N. diseases: 374; N. variants: 15
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: rs1894116
rs1894116 		1.000 0.120 11 102199908 intron variant A/G snv 8.2E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs11225154
rs11225154 		1.000 0.120 11 102172509 intron variant G/A;C snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2015 2018
dbSNP: rs10895275
rs10895275 		11 102212877 intron variant T/A snv 0.35
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10895278
rs10895278 		11 102224604 intron variant T/C snv 0.33
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs117496742
rs117496742 		1.000 0.120 11 102208982 intron variant G/A;T snv 1.3E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12787996
rs12787996 		11 102186337 non coding transcript exon variant C/A snv 0.31
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs587777249
rs587777249 		0.925 0.080 11 102114192 stop gained C/T snv
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 0
dbSNP: rs587777250
rs587777250 		0.925 0.080 11 102223655 stop gained G/T snv
CUI: C3805432
Disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 		0.700 0
dbSNP: rs762471803
rs762471803 		0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 0.500 2 2018 2019
dbSNP: rs11225138
rs11225138 		0.925 0.200 11 102123167 intron variant G/C snv 6.1E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11225138
rs11225138 		0.925 0.200 11 102123167 intron variant G/C snv 6.1E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11225161
rs11225161 		1.000 0.120 11 102199763 intron variant C/T snv 7.0E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1196220479
rs1196220479 		0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1196220479
rs1196220479 		0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1196220479
rs1196220479 		0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1196220479
rs1196220479 		0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1820453
rs1820453 		0.925 0.080 11 102109604 non coding transcript exon variant C/A snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1820453
rs1820453 		0.925 0.080 11 102109604 non coding transcript exon variant C/A snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs193100333
rs193100333 		1.000 0.040 11 102209523 missense variant C/T snv 3.0E-04 1.1E-04
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs587777249
rs587777249 		0.925 0.080 11 102114192 stop gained C/T snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777250
rs587777250 		0.925 0.080 11 102223655 stop gained G/T snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs61746398
rs61746398 		0.925 0.080 11 102205922 missense variant C/T snv 5.4E-04 7.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs61746398
rs61746398 		0.925 0.080 11 102205922 missense variant C/T snv 5.4E-04 7.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs762471803
rs762471803 		0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs762471803
rs762471803 		0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018