COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Deafness, Autosomal Recessive 53 ×
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: rs121912952
rs121912952 		1.000 0.120 6 33178143 missense variant G/T snv 9.0E-05 5.6E-05
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2005 2015
dbSNP: rs864309523
rs864309523 		1.000 0.120 6 33173522 missense variant G/T snv
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2005 2015
dbSNP: rs606231410
rs606231410 		0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs1562336726
rs1562336726 		1.000 0.120 6 33173096 frameshift variant G/- delins
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0