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

rs397518452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518452(A;T)
Make rs397518452(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position54283845
GeneHNRNPA1
is asnp
is mentioned by
dbSNPrs397518452
ebirs397518452
HLIrs397518452
Exacrs397518452
Varsomers397518452
Maprs397518452
PheGenIrs397518452
hapmaprs397518452
1000 genomesrs397518452
hgdprs397518452
ensemblrs397518452
gopubmedrs397518452
geneviewrs397518452
scholarrs397518452
googlers397518452
pharmgkbrs397518452
gwascentralrs397518452
openSNPrs397518452
23andMers397518452
23andMe allrs397518452
SNP Nexus

SNPshotrs397518452
SNPdbers397518452
MSV3drs397518452
GWAS Ctlgrs397518452
Max Magnitude0
ClinVar
Risk rs397518452(T;T)
Alt rs397518452(T;T)
Reference rs397518452(A;A)
Significance Pathogenic
Disease Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
Variation info
Gene HNRNPA1
CLNDBN Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
Reversed 0
HGVS NC_000012.11:g.54677629A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055649.29,