rs28931594
|
Entrez Id: |
2706 |
Gene Symbol: |
GJB2 |
GJB2
|
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
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 |
|
|
|
rs80338948
|
Entrez Id: |
2706 |
Gene Symbol: |
GJB2 |
GJB2
|
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80338950
|
Entrez Id: |
2706 |
Gene Symbol: |
GJB2 |
GJB2
|
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
|
18294064 |
2007 |
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 |
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 |
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 |
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 |