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: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 20 1998 2015
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.720 1.000 2 2005 2019
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2007 2007
dbSNP: rs80338948
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.010 1.000 1 2003 2003