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rs757332023

From SNPedia

Orientationplus
Stabilizedplus
Make rs757332023(A;A)
Make rs757332023(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position70212795
GeneTIA1
is asnp
is mentioned by
dbSNPrs757332023
dbSNP (classic)rs757332023
ClinGenrs757332023
ebirs757332023
HLIrs757332023
Exacrs757332023
Gnomadrs757332023
Varsomers757332023
LitVarrs757332023
Maprs757332023
PheGenIrs757332023
Biobankrs757332023
1000 genomesrs757332023
hgdprs757332023
ensemblrs757332023
geneviewrs757332023
scholarrs757332023
googlers757332023
pharmgkbrs757332023
gwascentralrs757332023
openSNPrs757332023
23andMers757332023
23andMe allrs757332023
SNPshotrs757332023
SNPdbers757332023
MSV3drs757332023
GWAS Ctlgrs757332023
Max Magnitude0

aka p.Pro362Leu or P362L

The rare rs757332023(A) mutation was identified in a family with Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); in general, more TIA1 gene mutations of this type (i.e. located in low-complexity domains of the protein) are found in ALS patients compared to controls (p = 8.7 × 10e−6).10.1016/j.neuron.2017.07.025