P2RX5, purinergic receptor P2X 5, 5026

N. diseases: 132; N. variants: 6
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: rs1334513880
rs1334513880
1.000 0.080 17 3679709 synonymous variant C/T snv 4.0E-06
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1402676440
rs1402676440
1.000 0.040 17 3690488 frameshift variant AGTTCTCTCTCCGCAGGCAGCGG/- del 7.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs147009070
rs147009070
1.000 0.040 17 3690128 missense variant C/T snv 5.5E-04 4.9E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs749290575
rs749290575
1.000 0.040 17 3690509 missense variant G/A;C snv 2.4E-05; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs765285029
rs765285029
1.000 0.040 17 3688046 missense variant T/C snv 1.2E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs766816990
rs766816990
1.000 0.080 17 3691667 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007