Annotation Detail
Information
- Associated Genes
- SOD2
- Associated Variants
-
SOD2 p.Val16Ala (p.V16A)
(
ENST00000337404.8,
ENST00000367054.6,
ENST00000367055.8,
ENST00000444946.6,
ENST00000452684.2,
ENST00000538183.7,
ENST00000546087.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 ) - Associated Disease
- Microvascular complications of diabetes, susceptibility to, 6
- Source Database
- ClinVar
- Description
- NM_000636.4(SOD2):c.47T>C (p.Val16Ala) AND Microvascular complications of diabetes, susceptibility to, 6
- ClinVar Allele ID
- 29790
- ClinVar RefSeq Alternation Syntax
- NM_001322814.2:c.47T>C
- ClinVar RefSeq Alternation Syntax
- NM_001322817.2:c.-92T>C
- ClinVar RefSeq Alternation Syntax
- NM_001322820.2:c.-92T>C
- ClinVar RefSeq Alternation Syntax
- NM_001024466.3:c.47T>C
- ClinVar RefSeq Alternation Syntax
- NM_001322816.2:c.47T>C
- ClinVar RefSeq Alternation Syntax
- NM_001322819.2:c.-92T>C
- ClinVar RefSeq Alternation Syntax
- NM_000636.4:c.47T>C
- ClinVar RefSeq Alternation Syntax
- NM_001024465.3:c.47T>C
- ClinVar RefSeq Alternation Syntax
- NM_001322815.2:c.47T>C
- Clinical Significance Description
- Likely risk allele; risk factor
- Clinical Significance Last Update
- 2007-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015873
- ClinVar Disease
- Microvascular complications of diabetes, susceptibility to, 6
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 17192491
- Pubmed
- 8633092
- Pubmed
- 16538174
- Pubmed
- 12624725
- Pubmed
- 10425186
- Pubmed
- 15591282
Drugs