RS111033299 GJB2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
8 conditions
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions
Nonsyndromic Deafness
Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
8 conditions
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
0%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in GJB2