rs104894396, GJB2

N. diseases: 28
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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.710 1.000 1 2019 2019
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 1.000 16 1997 2015
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
49 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
16 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Heterochromia iridis
CUI: C0423318
Disease: Heterochromia iridis
10 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
20 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
21 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
24 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Progressive hearing loss stapes fixation
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
35 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.020 1.000 2 2010 2011
Malocclusion
CUI: C0024636
Disease: Malocclusion
10 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2015 2015
Prelingual Deafness
CUI: C0011052
Disease: Prelingual Deafness
2 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2007 2007
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2016 2016