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rs397514517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a spinal muscular atrophy disease allele
Make rs397514517(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position70238300
GeneSMN1
is asnp
is mentioned by
dbSNPrs397514517
ebirs397514517
HLIrs397514517
Exacrs397514517
Varsomers397514517
Maprs397514517
PheGenIrs397514517
hapmaprs397514517
1000 genomesrs397514517
hgdprs397514517
ensemblrs397514517
gopubmedrs397514517
geneviewrs397514517
scholarrs397514517
googlers397514517
pharmgkbrs397514517
gwascentralrs397514517
openSNPrs397514517
23andMers397514517
23andMe allrs397514517
SNP Nexus

SNPshotrs397514517
SNPdbers397514517
MSV3drs397514517
GWAS Ctlgrs397514517
Max Magnitude3
ClinVar
Risk rs397514517(G;G)
Alt rs397514517(G;G)
Reference rs397514517(A;A)
Significance Pathogenic
Disease Kugelberg-Welander disease
Variation info
Gene SMN1
CLNDBN Kugelberg-Welander disease
Reversed 0
HGVS NC_000005.9:g.70238300A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032708.2,