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rs397518454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518454(A;G)
Make rs397518454(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position54283860
GeneHNRNPA1
is asnp
is mentioned by
dbSNPrs397518454
dbSNP (classic)rs397518454
ClinGenrs397518454
ebirs397518454
HLIrs397518454
Exacrs397518454
Gnomadrs397518454
Varsomers397518454
LitVarrs397518454
Maprs397518454
PheGenIrs397518454
Biobankrs397518454
1000 genomesrs397518454
hgdprs397518454
ensemblrs397518454
geneviewrs397518454
scholarrs397518454
googlers397518454
pharmgkbrs397518454
gwascentralrs397518454
openSNPrs397518454
23andMers397518454
SNPshotrs397518454
SNPdbers397518454
MSV3drs397518454
GWAS Ctlgrs397518454
Max Magnitude0
ClinVar
Risk rs397518454(G;G)
Alt rs397518454(G;G)
Reference Rs397518454(A;A)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 20
Variation info
Gene HNRNPA1
CLNDBN Amyotrophic lateral sclerosis 20
Reversed 0
HGVS NC_000012.11:g.54677644A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000055651.22,