Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT c.1999-6612A>G
(
ENST00000344290.10,
ENST00000574436.5,
ENST00000535772.6,
ENST00000262410.10,
ENST00000415613.6,
ENST00000446361.7,
ENST00000571987.5,
ENST00000431008.7,
ENST00000351559.10,
ENST00000334239.12,
ENST00000420682.7,
ENST00000680674.1 )
rs1768208 ( ENST00000383754.7, ENST00000415443.5, ENST00000420739.5, ENST00000428261.5, ENST00000441980.6, ENST00000447324.5, ENST00000682069.1, ENST00000684792.1 )
MAPT c.1999-6612A>G ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1 )
rs1768208 ( ENST00000383754.7, ENST00000415443.5, ENST00000420739.5, ENST00000428261.5, ENST00000441980.6, ENST00000447324.5, ENST00000682069.1, ENST00000684792.1 ) - Associated Disease
- Tauopathies
- Source Database
- DisGeNET
- Description
- Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated SNPs at rs8070723 (microtubule-associated protein tau [MAPT]) and rs1768208 (myelin-associated oligodendrocyte basic protein [MOBP]).
- Pubmed
- 24994843
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.208632972776538
- Year of publication
- 2014
Drugs