PRRX1, paired related homeobox 1, 5396

N. diseases: 134; 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: rs387906667
rs387906667
1.000 0.080 1 170719822 missense variant T/C snv
CUI: C0265242
Disease: Otocephaly
Otocephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs12142379
rs12142379
1.000 0.080 1 170724397 intron variant T/C snv 4.7E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2213751
rs2213751
1 170721452 intron variant T/G snv 0.14
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs4656220
rs4656220
1 170680136 intron variant C/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs503706
rs503706
1.000 0.080 1 170665943 intron variant T/C snv 0.63
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs520525
rs520525
1.000 0.080 1 170669192 non coding transcript exon variant A/C;G snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs659580
rs659580
1 170664755 intron variant T/C snv 0.81
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6693796
rs6693796
1.000 0.080 1 170674137 intron variant T/C snv 7.7E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6693796
rs6693796
1.000 0.080 1 170674137 intron variant T/C snv 7.7E-02
CUI: C3894553
Disease: response to simvastatin
response to simvastatin
0.700 1.000 1 2018 2018
dbSNP: rs76839558
rs76839558
1 170721990 intron variant T/A;G snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs398122375
rs398122375
1.000 0.080 1 170719747 frameshift variant A/-;AAAAA delins
CUI: C0265242
Disease: Otocephaly
Otocephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs593479
rs593479
1.000 0.080 1 170673758 intron variant T/C snv 0.60
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017