MPZL2, myelin protein zero like 2, 10205

N. diseases: 40; N. variants: 6
Disease: Nonsyndromic Deafness ×
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: rs752672077
rs752672077 		0.925 0.120 11 118263084 frameshift variant T/- del 8.1E-04 6.8E-04
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs756215789
rs756215789 		1.000 0.120 11 118263084 missense variant T/C snv 4.0E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018