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: rs1555341783
rs1555341783
GJB2
1.000 0.120 13 20188911 frameshift variant TTTT/- delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 0
dbSNP: rs587783647
rs587783647
GJB2
0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 4 2000 2014
dbSNP: rs587783647
rs587783647
GJB2
0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 3 2000 2014
dbSNP: rs587783647
rs587783647
GJB2
0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1555341794
rs1555341794
GJB2
1.000 0.120 13 20188937 frameshift variant A/- delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 1 2012 2012
dbSNP: rs587783646
rs587783646
GJB2
1.000 0.120 13 20188949 frameshift variant CA/- delins 4.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 5 1998 2011
dbSNP: rs587783646
rs587783646
GJB2
1.000 0.120 13 20188949 frameshift variant CA/- delins 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 11 2001 2013
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs111033294
rs111033294
GJB2
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1566528185
rs1566528185
GJB2
1.000 0.120 13 20188976 stop gained -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1566528185
rs1566528185
GJB2
1.000 0.120 13 20188976 stop gained -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 0
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: rs111033335
rs111033335
GJB2
1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs111033335
rs111033335
GJB2
1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 0
dbSNP: rs786204597
rs786204597
GJB2
0.925 0.120 13 20188984 stop gained C/A;T snv 1.6E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 8 2004 2015
dbSNP: rs786204597
rs786204597
GJB2
0.925 0.120 13 20188984 stop gained C/A;T snv 1.6E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 6 2009 2014
dbSNP: rs771748289
rs771748289
GJB2
1.000 0.120 13 20188986 missense variant G/A snv 1.2E-05; 1.2E-05 2.1E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 10 1999 2014