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: 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 35 1998 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 23 1998 2015
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: 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: 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 14 1997 2012
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: rs1291519904
rs1291519904
GJB2
0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 12 1998 2016
dbSNP: rs397516871
rs397516871
GJB2
1.000 0.120 13 20189303 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 12 1998 2012
dbSNP: rs779018464
rs779018464
GJB2
0.925 0.120 13 20189193 missense variant C/G;T snv 4.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 12 1998 2013
dbSNP: rs80338946
rs80338946
GJB2
1.000 0.120 13 20189243 missense variant A/C snv 1.2E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 12 1998 2013
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: 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: rs397516875
rs397516875
GJB2
0.925 0.120 13 20189197 stop gained C/A;T snv 6.4E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.800 1.000 8 1998 2016
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: rs1555341957
rs1555341957
GJB2
1.000 0.120 13 20189346 missense variant A/C;G snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 7 1998 2009
dbSNP: rs28931592
rs28931592
GJB2
1.000 0.120 13 20189106 missense variant T/A snv 2.8E-05 2.8E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 7 1998 2009
dbSNP: rs998045226
rs998045226
GJB2
1.000 0.120 13 20189032 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 7 1998 2009
dbSNP: rs756484720
rs756484720
GJB2
1.000 0.120 13 20189247 frameshift variant TT/- delins 8.0E-06 1.4E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 6 1998 2013
dbSNP: rs773528125
rs773528125
GJB2
1.000 0.120 13 20189070 frameshift variant -/CGTT delins 2.0E-05 2.8E-05
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 6 2002 2015