NRP1, neuropilin 1, 8829

N. diseases: 246; N. variants: 13
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: rs2228638
rs2228638
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.820 1.000 3 2013 2018
dbSNP: rs2506142
rs2506142
10 33179196 3 prime UTR variant A/G snv 0.21
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
Nervous System Diseases 0.710 1.000 2 2016 2018
dbSNP: rs10827209
rs10827209
10 33198261 intron variant A/C snv 0.23
CUI: C0019693
Disease: HIV Infections
HIV Infections
Infections; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs10827209
rs10827209
10 33198261 intron variant A/C snv 0.23
CUI: C0373595
Disease: Creatinine clearance measurement
Creatinine clearance measurement
0.700 1.000 1 2015 2015
dbSNP: rs10827226
rs10827226
10 33270391 intron variant T/A;C snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs17296436
rs17296436
1.000 0.040 10 33272632 intron variant A/G snv 0.18
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17296443
rs17296443
1.000 0.040 10 33272646 intron variant C/T snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2247015
rs2247015
10 33196550 intron variant G/A;T snv 0.46
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2253918
rs2253918
10 33189289 intron variant C/T snv 0.48
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2474714
rs2474714
10 33207055 intron variant A/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs2506149
rs2506149
10 33191785 intron variant C/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs10080
rs10080
1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2228638
rs2228638
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2228638
rs2228638
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs748899944
rs748899944
1.000 0.040 10 33221802 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs894220185
rs894220185
0.925 0.080 10 33334322 missense variant C/T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs894220185
rs894220185
0.925 0.080 10 33334322 missense variant C/T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015