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: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 4 1997 2009
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 0
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 0
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		0.700 0
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 0
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b 		0.700 0
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 0
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs80338944
rs80338944
GJB2
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.700 0