Annotation Detail
Information
- Associated Genes
- TMEM106B
- Associated Variants
-
TMEM106B p.Thr185Ser (p.T185S)
(
ENST00000396667.7,
ENST00000396668.8,
ENST00000444443.6,
ENST00000704348.1,
ENST00000704349.1,
ENST00000704416.1,
ENST00000704417.1,
ENST00000704455.1 )
rs1990622
TMEM106B p.Thr185Ser (p.T185S) ( ENST00000396667.7, ENST00000396668.8, ENST00000444443.6, ENST00000704348.1, ENST00000704349.1, ENST00000704416.1, ENST00000704417.1, ENST00000704455.1 )
rs1990622 - Associated Disease
- motor neuron disease
- Source Database
- DisGeNET
- Description
- We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
- Pubmed
- 24385136
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs