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: 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 18 1998 2015
dbSNP: rs104894402
rs104894402
GJB2
0.882 0.200 13 20189359 missense variant G/A;C snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 9 1998 2009
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 7 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 7 1998 2009
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 7 1998 2009
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 7 1998 2009
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 7 1998 2009
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: 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: rs76434661
rs76434661
GJB2
0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 10 2001 2014
dbSNP: rs777236559
rs777236559
GJB2
1.000 0.120 13 20188993 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 7 1998 2009
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 7 1997 2007
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: rs104894408
rs104894408
GJB2
0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 5 2004 2015
dbSNP: rs1057517519
rs1057517519
GJB2
0.925 0.120 13 20189523 missense variant A/G snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 5 2001 2014
dbSNP: rs779018464
rs779018464
GJB2
0.925 0.120 13 20189193 missense variant C/G;T snv 4.0E-06
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 5 2003 2013
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: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 4 2007 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: rs767178508
rs767178508
GJB2
0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 3 2004 2010
dbSNP: rs80338943
rs80338943
GJB2
0.851 0.120 13 20189347 frameshift variant G/- delins 4.7E-04; 4.0E-06 2.1E-04
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 3 1999 2003
dbSNP: rs199883710
rs199883710
GJB2
0.925 0.120 13 20189344 stop gained G/A snv 8.0E-06 6.3E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 2 2006 2007
dbSNP: rs371086981
rs371086981
GJB2
0.925 0.120 13 20189580 start lost A/C;G snv 4.0E-06 2.8E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 2 2002 2011
dbSNP: rs397516873
rs397516873
GJB2
0.925 0.120 13 20189514 frameshift variant ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/- del 2.0E-05 1.4E-05
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 2 2005 2011
dbSNP: rs1057517521
rs1057517521
GJB2
0.925 0.120 13 20189006 frameshift variant TG/- delins
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 1 2005 2005