AGFG1, ArfGAP with FG repeats 1, 3267

N. diseases: 100; N. variants: 4
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: rs13400297
rs13400297
1.000 0.080 2 227557073 3 prime UTR variant G/A snv 4.7E-02
Influenza due to Influenza A virus subtype H1N1
Infections; Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs769617030
rs769617030
1.000 0.040 2 227491553 synonymous variant A/T snv 4.9E-06
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs769617030
rs769617030
1.000 0.040 2 227491553 synonymous variant A/T snv 4.9E-06
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs772527880
rs772527880
2 227531108 missense variant G/A snv 4.0E-06
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs776720135
rs776720135
1.000 0.120 2 227533680 missense variant A/G snv 4.0E-05 2.1E-05
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776720135
rs776720135
1.000 0.120 2 227533680 missense variant A/G snv 4.0E-05 2.1E-05
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2019 2019