MSRB3, methionine sulfoxide reductase B3, 253827

N. diseases: 26; N. variants: 8
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: rs387907088
rs387907088 		1.000 12 65328584 missense variant T/G snv 1.2E-05
CUI: C2239351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 74
DEAFNESS, AUTOSOMAL RECESSIVE 74 		0.800 1.000 1 2011 2011
dbSNP: rs12825748
rs12825748 		12 65399373 intron variant G/C snv 0.28
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs12825748
rs12825748 		12 65399373 intron variant G/C snv 0.28
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs12825748
rs12825748 		12 65399373 intron variant G/C snv 0.28
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs1494502
rs1494502 		12 65430890 intron variant A/G snv 0.37
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2017 2017
dbSNP: rs182408739
rs182408739 		12 65332869 intron variant A/C snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs6581627
rs6581627 		12 65325449 intron variant G/C snv 0.60
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs149258390
rs149258390 		1.000 12 65308634 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C2239351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 74
DEAFNESS, AUTOSOMAL RECESSIVE 74 		0.700 0
dbSNP: rs751906778
rs751906778 		1.000 12 65463154 splice acceptor variant G/A snv 1.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs751906778
rs751906778 		1.000 12 65463154 splice acceptor variant G/A snv 1.2E-05
CUI: C2239351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 74
DEAFNESS, AUTOSOMAL RECESSIVE 74 		0.700 0
dbSNP: rs61921502
rs61921502 		1.000 0.080 12 65438688 intron variant T/G snv 0.10
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs61921502
rs61921502 		1.000 0.080 12 65438688 intron variant T/G snv 0.10
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019