TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
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: 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: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 1.000 3 2015 2017
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: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 1.000 3 2015 2017
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: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs397514713
rs397514713 		1.000 16 2496834 missense variant T/C snv
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 1.000 2 2013 2016
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.700 1.000 2 2014 2016
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 1.000 2 2014 2016
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs483352866
rs483352866 		0.882 0.240 16 2496681 missense variant C/G;T snv 8.0E-06
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.800 1.000 2 2014 2014
dbSNP: rs747538224
rs747538224 		0.925 0.040 16 2496993 missense variant C/G snv 1.8E-04 2.1E-05
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.700 1.000 2 2016 2017
dbSNP: rs747538224
rs747538224 		0.925 0.040 16 2496993 missense variant C/G snv 1.8E-04 2.1E-05
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 1.000 2 2016 2017
dbSNP: rs747821285
rs747821285 		0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014