P2RX6, purinergic receptor P2X 6, 9127

N. diseases: 85; 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: rs2075277
rs2075277 		1.000 0.120 22 21028193 3 prime UTR variant T/C snv 0.19
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs144110687
rs144110687 		1.000 0.080 22 21025856 synonymous variant C/G;T snv 4.3E-05
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1483068801
rs1483068801 		1.000 0.120 22 21025861 missense variant T/C snv 1.1E-05
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1483068801
rs1483068801 		1.000 0.120 22 21025861 missense variant T/C snv 1.1E-05
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs769112655
rs769112655 		1.000 0.040 22 21025893 missense variant G/A snv 7.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2013 2013