MPZL2, myelin protein zero like 2, 10205

N. diseases: 40; 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: rs1056562
rs1056562 		1.000 0.040 11 118254910 3 prime UTR variant T/C snv 0.57
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12798851
rs12798851 		11 118265258 non coding transcript exon variant T/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1629083
rs1629083 		1.000 0.080 11 118255861 intron variant C/T snv 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1565501066
rs1565501066 		1.000 11 118262954 synonymous variant G/A snv
CUI: C4748374
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 111
DEAFNESS, AUTOSOMAL RECESSIVE 111 		0.700 0
dbSNP: rs752672077
rs752672077 		0.925 0.120 11 118263084 frameshift variant T/- del 8.1E-04 6.8E-04
CUI: C4748374
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 111
DEAFNESS, AUTOSOMAL RECESSIVE 111 		0.700 0
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