RS80338942 GJB2
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What This Variant Does
"Known as 167delT, this is the most common nonsyndromic recessive deafness-associated SNP in Ashkenaz...
Associated Conditions
Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Nonsyndromic genetic hearing loss
Mutilating keratoderma
Autosomal dominant nonsyndromic hearing loss 3A
GJB2-related disorder
7 conditions
Hearing loss
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1B
See cases
Inborn genetic diseases
Palmoplantar keratoderma-deafness syndrome
Knuckle pads
deafness AND leukonychia syndrome
Other Variants in GJB2