rs201257588, TBC1D24

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Digitorenocerebral Syndrome
CUI: C0795934
Disease: Digitorenocerebral Syndrome
11 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.800 1.000 2 2014 2014
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
Abnormality of digit
CUI: C3550704
Disease: Abnormality of digit
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
11 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
Nail abnormality
CUI: C0853087
Disease: Nail abnormality
11 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
30 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
Triphalangeal thumb
CUI: C0241397
Disease: Triphalangeal thumb
15 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014