MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Deuteranomaly ×
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: rs242557
rs242557 		0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.030 1.000 3 2011 2017
dbSNP: rs143624519
rs143624519 		0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019