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: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 28 1998 2016
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.800 0.900 10 2004 2017
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.050 1.000 5 2002 2013
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.020 1.000 2 2015 2019
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 1.000 1 2016 2016
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		0.010 1.000 1 2015 2015
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C1148477
Disease: Deafness, Sudden
Deafness, Sudden 		0.010 1.000 1 2016 2016
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2015 2015