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rs76163360

From SNPedia

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


Make rs76163360(A;A)
ReferenceGRCh38 38.1/142
Chromosome5
Position70247769
GeneSMN1
is asnp
is mentioned by
dbSNPrs76163360
ebirs76163360
HLIrs76163360
Exacrs76163360
Varsomers76163360
Maprs76163360
PheGenIrs76163360
hapmaprs76163360
1000 genomesrs76163360
hgdprs76163360
ensemblrs76163360
gopubmedrs76163360
geneviewrs76163360
scholarrs76163360
googlers76163360
pharmgkbrs76163360
gwascentralrs76163360
openSNPrs76163360
23andMers76163360
23andMe allrs76163360
SNP Nexus

SNPshotrs76163360
SNPdbers76163360
MSV3drs76163360
GWAS Ctlgrs76163360
Max Magnitude3
OMIM600354
Desc
Variant0005
Relatedalso
ClinVar
Risk rs76163360(A;A)
Alt rs76163360(A;A)
Reference rs76163360(C;C)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene SMN1
CLNDBN Werdnig-Hoffmann disease
Reversed 1
HGVS NC_000005.9:g.70247769G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009738.4,