CABP2, calcium binding protein 2, 51475

N. diseases: 6; N. variants: 2
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: rs2276118
rs2276118 		11 67521123 missense variant C/T snv 0.53 0.42
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs149712664
rs149712664 		1.000 11 67519792 splice donor variant C/A;T snv 1.0E-03
CUI: C3888355
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93
DEAFNESS, AUTOSOMAL RECESSIVE 93 		0.700 0