PHB, prohibitin, 5245

N. diseases: 177; N. variants: 8
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: rs2898883
rs2898883 		1.000 0.040 17 49405591 intron variant G/A snv 0.23
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs2898883
rs2898883 		1.000 0.040 17 49405591 intron variant G/A snv 0.23
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs55714120
rs55714120 		17 49411461 intron variant G/T snv 0.24
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs55714120
rs55714120 		17 49411461 intron variant G/T snv 0.24
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs7502499
rs7502499 		1.000 0.040 17 49412740 non coding transcript exon variant G/A snv 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7502499
rs7502499 		1.000 0.040 17 49412740 non coding transcript exon variant G/A snv 0.23
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs112294663
rs112294663 		17 49404263 3 prime UTR variant G/A;C;T snv
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121918372
rs121918372 		1.000 0.080 17 49409410 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918373
rs121918373 		1.000 0.080 17 49409461 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs6917
rs6917 		0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs6917
rs6917 		0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs6917
rs6917 		0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6917
rs6917 		0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6917
rs6917 		0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6917
rs6917 		0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6917
rs6917 		0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs770849761
rs770849761 		0.925 0.080 17 49405053 missense variant C/T snv 9.6E-06 7.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs770849761
rs770849761 		0.925 0.080 17 49405053 missense variant C/T snv 9.6E-06 7.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018