PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
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: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.820 1.000 6 2011 2019
dbSNP: rs12526453
rs12526453 		0.827 0.160 6 12927312 intron variant C/G snv 0.27
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.820 1.000 4 2011 2017
dbSNP: rs12526453
rs12526453 		0.827 0.160 6 12927312 intron variant C/G snv 0.27
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.820 1.000 3 2009 2015
dbSNP: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.810 1.000 3 2013 2016
dbSNP: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.800 1.000 4 2012 2016
dbSNP: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.800 1.000 2 2011 2013
dbSNP: rs1223397
rs1223397 		6 13270713 intron variant G/A;C snv 0.19
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.800 1.000 1 2012 2012
dbSNP: rs1332844
rs1332844 		1.000 0.040 6 12888772 intron variant C/T snv 0.61
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs748743403
rs748743403 		1.000 6 13283473 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.800 0
dbSNP: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.760 1.000 11 2015 2019
dbSNP: rs12526453
rs12526453 		0.827 0.160 6 12927312 intron variant C/G snv 0.27
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.730 1.000 4 2013 2019
dbSNP: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.710 1.000 2 2011 2015
dbSNP: rs9349379
rs9349379 		0.732 0.200 6 12903725 intron variant A/G snv 0.32
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 3 2016 2019
dbSNP: rs10807323
rs10807323 		6 12794799 intron variant G/A snv 0.34
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11757278
rs11757278 		6 13180222 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11757634
rs11757634 		1.000 0.040 6 12964614 intron variant G/C snv 0.48
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1223397
rs1223397 		6 13270713 intron variant G/A;C snv 0.19
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs17802893
rs17802893 		6 12716327 upstream gene variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2026458
rs2026458 		0.882 0.080 6 12825642 intron variant C/T snv 0.34
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4236091
rs4236091 		1.000 0.040 6 12951808 intron variant G/A snv 0.52
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4236093
rs4236093 		1.000 0.040 6 12957593 non coding transcript exon variant C/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4615376
rs4615376 		1.000 0.040 6 13070841 intron variant A/G snv 0.28
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs4615376
rs4615376 		1.000 0.040 6 13070841 intron variant A/G snv 0.28
CUI: C3158111
Disease: response to SSRI
response to SSRI 		0.700 1.000 1 2015 2015
dbSNP: rs4711863
rs4711863 		6 12915185 intron variant G/C snv 0.29
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4714955
rs4714955 		1.000 0.040 6 12903203 intron variant C/A;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2014 2014