Annotation Detail
Information
- Associated Genes
- GSTT1
- Associated Variants
-
MPO p.Tyr203= (p.Y203=)
(
ENST00000225275.4 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280Pro (p.R280P) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MPO p.Tyr203= (p.Y203=) ( ENST00000225275.4 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280Pro (p.R280P) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- Spots on skin
- Source Database
- DisGeNET
- Description
- Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health.
- Pubmed
- 14716779
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2004
Drugs