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rs397518453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518453(A;A)
Make rs397518453(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position54283844
GeneHNRNPA1
is asnp
is mentioned by
dbSNPrs397518453
dbSNP (classic)rs397518453
ClinGenrs397518453
ebirs397518453
HLIrs397518453
Exacrs397518453
Gnomadrs397518453
Varsomers397518453
LitVarrs397518453
Maprs397518453
PheGenIrs397518453
Biobankrs397518453
1000 genomesrs397518453
hgdprs397518453
ensemblrs397518453
geneviewrs397518453
scholarrs397518453
googlers397518453
pharmgkbrs397518453
gwascentralrs397518453
openSNPrs397518453
23andMers397518453
SNPshotrs397518453
SNPdbers397518453
MSV3drs397518453
GWAS Ctlgrs397518453
Max Magnitude0
ClinVar
Risk rs397518453(A;A)
Alt rs397518453(A;A)
Reference Rs397518453(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 20
Variation info
Gene HNRNPA1
CLNDBN Amyotrophic lateral sclerosis 20
Reversed 0
HGVS NC_000012.11:g.54677628G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000055650.26,