OTOG, otogelin, 340990

N. diseases: 10; N. variants: 9
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: rs397514607
rs397514607 		1.000 11 17612638 missense variant C/T snv
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.800 1.000 1 2012 2012
dbSNP: rs78894156
rs78894156 		1.000 0.080 11 17620582 intron variant T/C snv 4.8E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1029389440
rs1029389440 		1.000 11 17610769 frameshift variant C/- delins 1.3E-05 3.5E-05
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.700 0
dbSNP: rs1565127413
rs1565127413 		11 17633806 frameshift variant G/- del
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565129771
rs1565129771 		1.000 11 17638515 stop gained G/A snv
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.700 0
dbSNP: rs397514608
rs397514608 		1.000 11 17613696 stop gained C/G;T snv 5.3E-05
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.700 0
dbSNP: rs554847663
rs554847663 		1.000 11 17574890 stop gained C/T snv 3.8E-04 3.9E-04
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.700 0
dbSNP: rs574007567
rs574007567 		1.000 11 17553120 stop gained C/G snv 1.4E-05 7.0E-06
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.700 0
dbSNP: rs866476223
rs866476223 		1.000 11 17634218 stop gained C/A;T snv 2.0E-05; 2.4E-04
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		0.700 0