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: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 6 1997 2015
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 1.000 1 2007 2007
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 1.000 1 2007 2007
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.700 1.000 1 2007 2007
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 1.000 1 2007 2007
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b 		0.700 0