TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86 ×
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: rs587777147
rs587777147 		1.000 16 2496356 missense variant G/T snv 4.0E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.800 1.000 1 2014 2014
dbSNP: rs376712059
rs376712059 		0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 1.000 3 2015 2017
dbSNP: rs199700840
rs199700840 		1.000 16 2497026 missense variant G/A;C snv 1.9E-04; 8.0E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 1.000 1 2014 2014
dbSNP: rs1567411469
rs1567411469 		0.925 16 2496494 stop gained A/T snv
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 0
dbSNP: rs878853232
rs878853232 		1.000 16 2496342 missense variant G/A;T snv 8.0E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 0