RS104894396 GJB2

Health Risk Chr 13:20189510 snv stop gained
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What This Variant Does
"aka c.71G&gt
Associated Conditions
Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1B
Rare genetic deafness
Ichthyosis
hystrix-like
with hearing loss
autosomal recessive
Mutilating keratoderma
Palmoplantar keratoderma-deafness syndrome
Hereditary palmoplantar keratoderma
7 conditions
ClinVar Assertions (1)
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
· 53 submitters
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
0.2%
Other Variants in GJB2
rs35887622 rs80338944 rs104894397 rs80338939 rs104894398 rs80338947 rs80338950 rs80338948 rs80338942 rs104894402
Ask Dr. Hemsworth about this variant