MSRB3, methionine sulfoxide reductase B3, 253827

N. diseases: 26; N. variants: 8
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 74 ×
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: 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: C2239351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 74
DEAFNESS, AUTOSOMAL RECESSIVE 74 		0.700 0