Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356717(A;G)
Make rs80356717(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11018836
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356717
ebirs80356717
HLIrs80356717
Exacrs80356717
Varsomers80356717
Maprs80356717
PheGenIrs80356717
hapmaprs80356717
1000 genomesrs80356717
hgdprs80356717
ensemblrs80356717
gopubmedrs80356717
geneviewrs80356717
scholarrs80356717
googlers80356717
pharmgkbrs80356717
gwascentralrs80356717
openSNPrs80356717
23andMers80356717
23andMe allrs80356717
SNP Nexus

SNPshotrs80356717
SNPdbers80356717
MSV3drs80356717
GWAS Ctlgrs80356717
Max Magnitude0
OMIM605078
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80356717(G;G)
Alt rs80356717(G;G)
Reference rs80356717(A;A)
Significance Other
Disease Amyotrophic lateral sclerosis type 10
Variation info
Gene TARDBP
CLNDBN Amyotrophic lateral sclerosis type 10
Reversed 0
HGVS NC_000001.10:g.11078893A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005544.5,


[PMID 18372902] TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.