SLC4A7, solute carrier family 4 member 7, 9497

N. diseases: 34; N. variants: 12
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: rs4973768
rs4973768 		0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 17 2009 2019
dbSNP: rs4973768
rs4973768 		0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 15 2009 2019
dbSNP: rs11716531
rs11716531 		3 27415717 intron variant G/A snv 0.18
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs13063291
rs13063291 		3 27404794 intron variant T/A snv 0.21 0.19
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs13063291
rs13063291 		3 27404794 intron variant T/A snv 0.21 0.19
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3755652
rs3755652 		3 27431445 missense variant C/T snv 0.20 0.18
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs450189
rs450189 		3 27481209 intron variant T/C snv 0.28
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs450189
rs450189 		3 27481209 intron variant T/C snv 0.28
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs571893049
rs571893049 		3 27449048 intron variant T/-;TT;TTT delins
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs60605842
rs60605842 		3 27439550 intron variant A/G snv 0.29
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs60605842
rs60605842 		3 27439550 intron variant A/G snv 0.29
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6771541
rs6771541 		1.000 3 27485025 upstream gene variant C/T snv 0.38
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs6771541
rs6771541 		1.000 3 27485025 upstream gene variant C/T snv 0.38
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs7619833
rs7619833 		1.000 0.080 3 27468223 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1295540039
rs1295540039 		1.000 0.160 3 27390094 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2307032
rs2307032 		0.925 0.080 3 27391504 intron variant T/C snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2307032
rs2307032 		0.925 0.080 3 27391504 intron variant T/C snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3278
rs3278 		1.000 0.080 3 27433860 intron variant G/A snv 0.13
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs4973768
rs4973768 		0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4973768
rs4973768 		0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4973768
rs4973768 		0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs4973768
rs4973768 		0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4973768
rs4973768 		0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2016 2016