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: rs28931594
rs28931594
GJB2
0.790 0.280 13 20189434 missense variant C/A;T snv
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.880 1.000 0 2002 2019
dbSNP: rs104894408
rs104894408
GJB2
0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.850 1.000 0 2002 2018
dbSNP: rs104894403
rs104894403
GJB2
0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.830 1.000 0 1999 2010
dbSNP: rs104894410
rs104894410
GJB2
0.807 0.320 13 20189407 missense variant C/G;T snv
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.810 1.000 0 2004 2019
dbSNP: rs28929485
rs28929485
GJB2
0.807 0.320 13 20189532 missense variant G/A;C snv
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.810 1.000 0 2004 2004
dbSNP: rs104894404
rs104894404
GJB2
0.882 0.200 13 20189406 missense variant C/G;T snv
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.800 1.000 0 1998 2008
dbSNP: rs104894406
rs104894406
GJB2
0.925 0.200 13 20188977 missense variant C/A snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 0 1998 2009
dbSNP: rs104894407
rs104894407
GJB2
0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 0 1998 2009
dbSNP: rs104894412
rs104894412
GJB2
0.925 0.320 13 20189420 missense variant G/T snv
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.800 1.000 0 2004 2005
dbSNP: rs104894413
rs104894413
GJB2
0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 0 1998 2009
dbSNP: rs121912968
rs121912968
GJB2
0.827 0.280 13 20189364 missense variant T/C snv
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.800 1.000 0 1998 2008
dbSNP: rs28931593
rs28931593
GJB2
0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.800 1.000 0 1998 2008
dbSNP: rs28931594
rs28931594
GJB2
0.790 0.280 13 20189434 missense variant C/A;T snv
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.800 1.000 0 2002 2002
dbSNP: rs28931595
rs28931595
GJB2
0.925 0.200 13 20189047 missense variant C/A;G;T snv 4.0E-06
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 0 1998 2009
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 0 2004 2017
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 0 1998 2009
dbSNP: rs72561723
rs72561723
GJB2
0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.780 1.000 0 2006 2019
dbSNP: rs80338950
rs80338950
GJB2
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.730 0.667 0 2010 2017
dbSNP: rs104894402
rs104894402
GJB2
0.882 0.200 13 20189359 missense variant G/A;C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.720 1.000 0 2000 2001
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: 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 0 2005 2019
dbSNP: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.710 1.000 0 2019 2019
dbSNP: rs104894403
rs104894403
GJB2
0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.710 1.000 0 1999 1999
dbSNP: rs104894407
rs104894407
GJB2
0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.710 1.000 0 2001 2001
dbSNP: rs397516874
rs397516874
GJB2
1.000 0.120 13 20189212 stop gained G/A snv 8.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.710 1.000 0 2017 2017