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: rs150529554
rs150529554
GJB2
13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs375759781
rs375759781
GJB2
13 20189108 stop gained G/A;C snv 1.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1273330603
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1273330603
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 0
dbSNP: rs1273330603
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.700 0
dbSNP: rs104894409
rs104894409
GJB2
0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 29 1998 2016
dbSNP: rs143343083
rs143343083
GJB2
1.000 0.120 13 20189284 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 17 1999 2016
dbSNP: rs111033190
rs111033190
GJB2
0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 16 1998 2015
dbSNP: rs1801002
rs1801002
GJB2
0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 16 2000 2015
dbSNP: rs111033295
rs111033295
GJB2
0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 15 1999 2016
dbSNP: rs104894401
rs104894401
GJB2
0.851 0.120 13 20189154 missense variant C/T snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 14 2001 2015
dbSNP: rs111033451
rs111033451
GJB2
0.925 0.120 13 20189563 stop gained G/A snv 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2016
dbSNP: rs104894401
rs104894401
GJB2
0.851 0.120 13 20189154 missense variant C/T snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 12 1998 2015
dbSNP: rs1801002
rs1801002
GJB2
0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 12 2000 2015
dbSNP: rs111033190
rs111033190
GJB2
0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 11 2001 2015
dbSNP: rs111033217
rs111033217
GJB2
1.000 0.120 13 20189538 missense variant T/G snv 1.2E-05 2.8E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 10 2002 2009
dbSNP: rs111033295
rs111033295
GJB2
0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 10 2002 2016
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
dbSNP: rs532203068
rs532203068
GJB2
1.000 0.120 13 20188999 missense variant T/A;C snv 3.2E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 9 2009 2016
dbSNP: rs111033204
rs111033204
GJB2
0.925 0.120 13 20189282 frameshift variant AT/- del 6.4E-05 2.8E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 8 2000 2013
dbSNP: rs111033253
rs111033253
GJB2
0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 8 1999 2016
dbSNP: rs397516874
rs397516874
GJB2
1.000 0.120 13 20189212 stop gained G/A snv 8.4E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 8 1998 2013
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: rs80338947
rs80338947
GJB2
1.000 0.120 13 20189222 inframe deletion CTC/- delins 7.2E-05 9.1E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 8 1999 2015
dbSNP: rs104894397
rs104894397
GJB2
0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 7 1997 2012