Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
rs1387153
CYBA p.Tyr72His (p.Y72H) ( ENST00000696162.1, ENST00000696157.1, ENST00000696161.1, ENST00000696156.1, ENST00000261623.8, ENST00000696158.1, ENST00000569359.5, ENST00000696163.1, ENST00000696159.1, ENST00000567174.5, ENST00000696160.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
CAV1 c.196-2148T>C ( ENST00000341049.7, ENST00000393467.1, ENST00000393468.1, ENST00000393470.1, ENST00000405348.6, ENST00000614113.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
MTRR SNV
rs1387153
CYBA p.Tyr72His (p.Y72H) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
CAV1 c.196-2148T>C ( ENST00000341049.7, ENST00000393467.1, ENST00000393468.1, ENST00000393470.1, ENST00000405348.6, ENST00000614113.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NC_012920.1(MT-ND2):m.5178C>A - Associated Disease
- Sensorineural Hearing Loss (disorder)
- Source Database
- DisGeNET
- Description
- Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984).
- Pubmed
- 23560644
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs