Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 27 1997 2015
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 7 1998 2009
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.730 0.667 3 2010 2017
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 0
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 0
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 0
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		0.700 0
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.700 0
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.020 1.000 2 2010 2011
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.010 1.000 1 2011 2011