Source: CLINVAR

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: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 10 1998 2014
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.720 1.000 0 2005 2007
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1305740
Disease: Overbite
Overbite 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C4025316
Disease: Temporal hypotrichosis
Temporal hypotrichosis 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1845878
Disease: Irregularly spaced teeth
Irregularly spaced teeth 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C4021892
Disease: Absent fifth toenail
Absent fifth toenail 		0.700 0