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rs140547520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs140547520(C;C)
Make rs140547520(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4945973
GenePFN1
is asnp
is mentioned by
dbSNPrs140547520
ebirs140547520
HLIrs140547520
Exacrs140547520
Varsomers140547520
Maprs140547520
PheGenIrs140547520
hapmaprs140547520
1000 genomesrs140547520
hgdprs140547520
ensemblrs140547520
gopubmedrs140547520
geneviewrs140547520
scholarrs140547520
googlers140547520
pharmgkbrs140547520
gwascentralrs140547520
openSNPrs140547520
23andMers140547520
23andMe allrs140547520
SNP Nexus

SNPshotrs140547520
SNPdbers140547520
MSV3drs140547520
GWAS Ctlgrs140547520
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs140547520(C;C)
Alt rs140547520(C;C)
Reference rs140547520(T;T)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 18
Variation info
Gene PFN1
CLNDBN Amyotrophic lateral sclerosis 18
Reversed 0
HGVS NC_000017.10:g.4849268T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030697.24,