rs28931594
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.800
GeneticVariation
UNIPROT
HID and KID syndromes are associated with the same connexin 26 mutation.
12072059
2002
rs28931594
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.800
CausalMutation
CLINVAR
rs80338939
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
18294064
2007
rs80338942
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
C
0.700
CausalMutation
CLINVAR
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
17666888
2007
rs80338939
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
12172392
2002
rs80338939
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
10713883
2000
rs80338939
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
10376574
1999
rs80338939
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
9336442
1997
rs80338939
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
9328482
1997
rs80338939
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
9285800
1997
rs104894396
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs104894398
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
rs104894408
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
GeneticVariation
CLINVAR
rs104894413
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs111033293
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
C
0.700
CausalMutation
CLINVAR
rs111033294
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
C
0.700
CausalMutation
CLINVAR
rs111033299
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs371024165
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs72474224
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
GeneticVariation
CLINVAR
rs727503066
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
A
0.700
CausalMutation
CLINVAR
rs76434661
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs774518779
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs80338940
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs80338944
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
T
0.700
CausalMutation
CLINVAR
rs80338945
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
G
0.700
CausalMutation
CLINVAR