Annotation Detail
Information
- Associated Genes
- ATXN2
- Associated Variants
-
SH2B3 p.Trp262Arg (p.W262R)
(
ENST00000341259.7,
ENST00000538307.1 )
ATXN2 c.2525-1673T>C ( ENST00000672613.1, ENST00000535949.5, ENST00000673283.1, ENST00000616825.4, ENST00000542287.6, ENST00000673436.1, ENST00000550104.5, ENST00000647305.1, ENST00000673449.1, ENST00000644883.1, ENST00000389153.10, ENST00000643669.2, ENST00000673557.1, ENST00000608853.5 )
ATXN2 c.252-14033G>A ( ENST00000672613.1, ENST00000535949.5, ENST00000673283.1, ENST00000673436.1, ENST00000542287.6, ENST00000616825.4, ENST00000550104.5, ENST00000673449.1, ENST00000647305.1, ENST00000673557.1, ENST00000644883.1, ENST00000643669.2, ENST00000389153.10, ENST00000608853.5 )
SH2B3 p.Trp262Arg (p.W262R) ( ENST00000341259.7, ENST00000538307.1 )
ATXN2 c.2525-1673T>C ( ENST00000389153.10, ENST00000535949.5, ENST00000542287.6, ENST00000550104.5, ENST00000608853.5, ENST00000616825.4, ENST00000643669.2, ENST00000644883.1, ENST00000647305.1, ENST00000672613.1, ENST00000673283.1, ENST00000673436.1, ENST00000673449.1, ENST00000673557.1 )
ATXN2 c.252-14033G>A ( ENST00000389153.10, ENST00000535949.5, ENST00000542287.6, ENST00000550104.5, ENST00000608853.5, ENST00000616825.4, ENST00000643669.2, ENST00000644883.1, ENST00000647305.1, ENST00000672613.1, ENST00000673283.1, ENST00000673436.1, ENST00000673449.1, ENST00000673557.1 ) - Associated Disease
- antiphospholipid syndrome
- Source Database
- DisGeNET
- Description
- Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10(-4) OR 95% CI 1.84 (1.32-2.55)).
- Pubmed
- 23844121
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs