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SUBMITTED BY
Full name:
Institution:
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Telephone:
Email
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GENERAL INFORMATION
Gene symbol
*
:
OMIM:
Phynotype
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:
OMIM:
Classification :
Not elsewhere classified
Certain infectious and parasitic diseases
Congenital malformations and chromosomal abnormalities
Disorders involving the immune mechanism
Diseases of the circulatory system
Diseases of the ear and mastoid process
Diseases of the eye and adnexa
Diseases of the genitourinary system
Diseases of the musculoskeletal system and connective tissue
Diseases of the nervous system
Diseases of the skin and subcutaneous tissue
Endocrine, nutritional and metabolic disease
Mental and behavioural disorders
Neoplasms
Pregnancy, childbirth and the puerperium
Diseases of the digestive system
Mode of inheritance:
Unknown
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Y-linked
Mitochondrial inheritance
Multiple
Multifactorial
Sporadic
Somatic mutation
VARIATION DETAILS
DNA Change:
Protein Effect:
Exon/Intron Location:
Base change type:
others
deletion
duplication
indel
insertion
repeat
substitution
Sample size:
Ethnic group:
Reference:
*
:
Reference url:
Comments:
FREQUENCY DETAILS
Allele number :
2
3
4
5
6
7
8
9
10
Allele
Frequency in cases
Frequency in controls
p_value
OR
Genotype
Frequency in cases
Frequency in controls
p_value
OR
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