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: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C4025316
Disease: Temporal hypotrichosis
Temporal hypotrichosis 		0.700 0
dbSNP: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.700 0
dbSNP: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C1836674
Disease: Short distal phalanx of the 5th finger
Short distal phalanx of the 5th finger 		0.700 0
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		0.700 0
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 1.000 7 1997 2007
dbSNP: rs80338942
rs80338942
GJB2
0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs104894398
rs104894398
GJB2
0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
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: rs104894413
rs104894413
GJB2
0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs111033293
rs111033293
GJB2
0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05
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: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs111033299
rs111033299
GJB2
0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs1566528711
rs1566528711
GJB2
0.851 0.240 13 20189338 missense variant T/C snv
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
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: 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: rs371024165
rs371024165
GJB2
0.763 0.400 13 20189488 missense variant G/A;T snv 3.2E-05; 8.0E-06
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
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: rs727503066
rs727503066
GJB2
0.776 0.280 13 20189203 missense variant G/A;C snv
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs76434661
rs76434661
GJB2
0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0
dbSNP: rs774518779
rs774518779
GJB2
0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 0