Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTHFD1 c.2136+31G>A
(
ENST00000554768.6,
ENST00000697174.1,
ENST00000557539.2,
ENST00000652337.1,
ENST00000557370.3,
ENST00000697168.1,
ENST00000697173.1,
ENST00000545908.6 )
TYMS c.206-405C>T ( ENST00000323224.7, ENST00000323250.9, ENST00000323274.15 )
TYMS c.280-43G>A ( ENST00000323224.7, ENST00000323250.9, ENST00000323274.15 )
TYMS c.455-2701G>A ( ENST00000323224.7, ENST00000323250.9, ENST00000323274.15 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
CBS c.317-917A>G ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
CBS c.316+728C>T ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
BOLA3 c.258+248T>A ( ENST00000295326.4, ENST00000327428.10 )
SLC4A5 c.2434-214T>C ( ENST00000377634.8, ENST00000394019.7, ENST00000423644.5, ENST00000346834.8, ENST00000358683.8, ENST00000377632.5 )
BHMT p.Arg239Gln (p.R239Q) ( ENST00000274353.10, ENST00000524080.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Lys350Arg (p.K350R) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.His595Tyr (p.H595Y) ( ENST00000264668.6, ENST00000440940.7 )
MTRR c.*541G>A ( ENST00000264668.6, ENST00000440940.7 )
MTHFD1 c.2136+31G>A ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
TYMS c.206-405C>T ( ENST00000323224.7, ENST00000323250.9, ENST00000323274.15 )
TYMS c.280-43G>A ( ENST00000323224.7, ENST00000323250.9, ENST00000323274.15 )
TYMS c.455-2701G>A ( ENST00000323224.7, ENST00000323250.9, ENST00000323274.15 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
CBS c.317-917A>G ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
CBS c.316+728C>T ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
BOLA3 c.258+248T>A ( ENST00000295326.4, ENST00000327428.10 )
SLC4A5 c.2434-214T>C ( ENST00000346834.8, ENST00000358683.8, ENST00000377632.5, ENST00000377634.8, ENST00000394019.7, ENST00000423644.5 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Lys350Arg (p.K350R) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.His595Tyr (p.H595Y) ( ENST00000264668.6, ENST00000440940.7 )
MTRR c.*541G>A ( ENST00000264668.6, ENST00000440940.7 )
BHMT p.Arg239Gln (p.R239Q) ( ENST00000274353.10, ENST00000524080.1 ) - Associated Disease
- spina bifida
- Source Database
- DisGeNET
- Description
- With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3).
- Pubmed
- 19493349
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0195412717463718
- Year of publication
- 2009
Drugs