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rs397514518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 carrier of a spinal muscular atrophy disease allele
(T;T) 0 common in clinvar


Make rs397514518(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position70238299
GeneSMN1
is asnp
is mentioned by
dbSNPrs397514518
ebirs397514518
HLIrs397514518
Exacrs397514518
Varsomers397514518
Maprs397514518
PheGenIrs397514518
hapmaprs397514518
1000 genomesrs397514518
hgdprs397514518
ensemblrs397514518
gopubmedrs397514518
geneviewrs397514518
scholarrs397514518
googlers397514518
pharmgkbrs397514518
gwascentralrs397514518
openSNPrs397514518
23andMers397514518
23andMe allrs397514518
SNP Nexus

SNPshotrs397514518
SNPdbers397514518
MSV3drs397514518
GWAS Ctlgrs397514518
Max Magnitude3
ClinVar
Risk rs397514518(C;C)
Alt rs397514518(C;C)
Reference rs397514518(T;T)
Significance Pathogenic
Disease Kugelberg-Welander disease
Variation info
Gene SMN1
CLNDBN Kugelberg-Welander disease
Reversed 0
HGVS NC_000005.9:g.70238299T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032709.2,